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_004360.4(CDH1):c.363C>A (p.His121Gln)

CA8129833

582514 (ClinVar)

Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: b0388c61-4118-4cf7-90e1-627bd8d2bf84
Approved on: 2023-08-21
Published on: 2023-08-21

HGVS expressions

NM_004360.4:c.363C>A
NM_004360.4(CDH1):c.363C>A (p.His121Gln)
NC_000016.10:g.68801869C>A
CM000678.2:g.68801869C>A
NC_000016.9:g.68835772C>A
CM000678.1:g.68835772C>A
NC_000016.8:g.67393273C>A
NG_008021.1:g.69578C>A
ENST00000261769.10:c.363C>A
ENST00000261769.9:c.363C>A
ENST00000422392.6:c.363C>A
ENST00000561751.1:n.130C>A
ENST00000562836.5:n.434C>A
ENST00000564676.5:n.645C>A
ENST00000564745.1:n.358C>A
ENST00000566510.5:c.363C>A
ENST00000566612.5:c.363C>A
ENST00000611625.4:c.363C>A
ENST00000612417.4:c.363C>A
ENST00000621016.4:c.363C>A
NM_004360.3:c.363C>A
NM_001317184.1:c.363C>A
NM_001317185.1:c.-1253C>A
NM_001317186.1:c.-1457C>A
NM_004360.5:c.363C>A
NM_001317184.2:c.363C>A
NM_001317185.2:c.-1253C>A
NM_001317186.2:c.-1457C>A
NM_004360.5(CDH1):c.363C>A (p.His121Gln)

Uncertain Significance

Met criteria codes 1
PM2_Supporting
Not Met criteria codes 25
PP4 PP3 PP2 PP1 PM4 PM5 PM1 PM3 PS1 PS3 PS2 PS4 PM6 BA1 BP7 BP5 BP3 BP4 BP1 BP2 PVS1 BS3 BS4 BS1 BS2

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.363C>A variant is <1/50,000 alleles (0.002%, 2/113,262 alleles) in the non-Finnish European gnomAD subpopulation (PM2_Supporting; http://gnomad.broadinstitute.org). No additional evidence met criteria for consideration. Therefore, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): PM2_Supporting.
Met criteria codes
PM2_Supporting
<1/50,000 alleles in a gnomAD subpopulation. Allele frequency of 0.00001766 (0.002%, 2/113,262 alleles) in the non-Finnish European subpopulation - gnomAD v2.1.1
Not Met criteria codes
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP2
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
PM4
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
PM1
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
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
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
SCV000835669.1 - This family does not meet clinical criteria for HDGC.
PM6
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
BP7
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
BP3
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
BP2
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
BS3
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
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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.