Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
Link to SEPIO compliant JSON-LD document

Variant: NM_004360.5(CDH1):c.2076_2077inv (p.Gly693Ser)

CA349680

220300 (ClinVar)

Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 4d8a8b46-26bd-4516-978f-f4181f76b2b5

HGVS expressions

NM_004360.5:c.2076_2077inv
NM_004360.5(CDH1):c.2076_2077inv (p.Gly693Ser)
NC_000016.10:g.68823538_68823539delinsCA
CM000678.2:g.68823538_68823539delinsCA
NC_000016.9:g.68857441_68857442delinsCA
CM000678.1:g.68857441_68857442delinsCA
NC_000016.8:g.67414942_67414943delinsCA
NG_008021.1:g.91247_91248delinsCA
ENST00000261769.10:c.2076_2077delinsCA
ENST00000261769.9:c.2076_2077delinsCA
ENST00000422392.6:c.1893_1894delinsCA
ENST00000562118.1:n.294_295delinsCA
ENST00000562836.5:n.2147_2148delinsCA
ENST00000566510.5:c.*742_*743delinsCA
ENST00000566612.5:c.*316_*317delinsCA
ENST00000611625.4:c.2139_2140delinsCA
ENST00000612417.4:c.1830+1419_1830+1420delinsCA
ENST00000621016.4:c.1865+1384_1865+1385delinsCA
NM_004360.3:c.2076_2077delinsCA
NM_001317184.1:c.1893_1894delinsCA
NM_001317185.1:c.528_529delinsCA
NM_001317186.1:c.111_112delinsCA
NM_004360.4:c.2076_2077delinsCA
NM_004360.5:c.2076_2077delinsCA
NM_001317184.2:c.1893_1894delinsCA
NM_001317185.2:c.528_529delinsCA
NM_001317186.2:c.111_112delinsCA

Likely Benign

Met criteria codes 1
BS2
Not Met criteria codes 25
PM6 PM2 PM3 PM5 PM4 PM1 BA1 PVS1 BS4 BS1 BS3 BP2 BP4 BP1 BP3 BP5 BP7 PS4 PS2 PS1 PS3 PP4 PP1 PP3 PP2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
CDH1 VCEP
The c.2076_2077inv (p.Gly693Ser) variant has been observed in >10 (41) individuals without a diagnosis of diffuse gastric cancer, signet ring tumor or lobular breast cancer and whose family histories do not suggest HDGC (BS2; SCV000260738.9). In summary, the clinical significance of this variant is classified as likely benign based on BS2 alone. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BS2
Met criteria codes
BS2
>10 (41) individuals without DCG, SRC tumors, or LBC & whose families do not suggest HDGC (SCV000260738.8)
Not Met criteria codes
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
gnomAD v2.1: European (non-Finnish) AF is 0.00007743 (0.008%, 10/129,156 alleles, 0 homozygotes) for p.Gly693Ser (16-68857442-G-A), which can be seen to be in cis with p.Ala692Ala (16-68857441-T-C) in two examples.
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
NNSplice - no predictions
PP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2023-08-17
Published on: 2023-08-17
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.