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.2311C>T (p.Gln771Ter)

CA396470822

428624 (ClinVar)

Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: a900acc8-7a69-4034-a12b-01fa5d64d142

HGVS expressions

NM_004360.5:c.2311C>T
NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter)
NC_000016.10:g.68829669C>T
CM000678.2:g.68829669C>T
NC_000016.9:g.68863572C>T
CM000678.1:g.68863572C>T
NC_000016.8:g.67421073C>T
NG_008021.1:g.97378C>T
ENST00000261769.10:c.2311C>T
ENST00000261769.9:c.2311C>T
ENST00000422392.6:c.2128C>T
ENST00000562118.1:n.529C>T
ENST00000562836.5:n.2382C>T
ENST00000566510.5:c.*977C>T
ENST00000566612.5:c.*551C>T
ENST00000611625.4:c.2374C>T
ENST00000612417.4:c.1853+3115C>T
ENST00000621016.4:c.1866-4534C>T
NM_004360.3:c.2311C>T
NM_001317184.1:c.2128C>T
NM_001317185.1:c.763C>T
NM_001317186.1:c.346C>T
NM_004360.4:c.2311C>T
NM_001317184.2:c.2128C>T
NM_001317185.2:c.763C>T
NM_001317186.2:c.346C>T

Pathogenic

Met criteria codes 3
PM2_Supporting PVS1 PM5_Supporting
Not Met criteria codes 23
PS2 PS3 PS1 PS4 BA1 PP4 PP1 PP3 PP2 PM3 PM1 PM4 PM6 BS2 BS4 BS3 BS1 BP2 BP3 BP4 BP1 BP5 BP7

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.2311C>T (p.Gln771Ter) variant is predicted to result in a premature stop codon that leads to nonsense mediate decay (PVS1 and PM5_supporting). The variant is absent in the gnomAD cohort (PM2_supporting; http://gnomad.broadinstitute.org). Therefore, this variant meets criteria to be classified as pathogenic based on the ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel (CDH1 VCEP specifications version 3.1): PVS1, PM2_supporting, PM5_supporting.
Met criteria codes
PM2_Supporting
Absent in gnomAD population database
PVS1
Premature termination occurs upstream of the NMD boundary
PM5_Supporting
Premature termination occurs upstream of the NMD boundary
Not Met criteria codes
PS2
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
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
Ambry: Proband 1: F with gastric cancer in 30s. Mother with stomach cancer in 20s. MGM with colon cancer in 70s. (not meet due to lack of pathology information)
BA1
Absent in gnomAD population database
PP4
Use PS4 in place of PP4
PP1
applied PS4
PP3
variant is predicted to result in a premature stop codon
PP2
variant is predicted to result in a premature stop codon
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
Do not use for this gene
PM4
variant is predicted to result in a premature stop codon
PM6
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
BS4
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
BS1
Absent in gnomAD population database
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
variant is predicted to result in a premature stop codon
BP4
variant is predicted to result in a premature stop codon
BP1
variant is predicted to result in a premature stop codon
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
variant is predicted to result in a premature stop codon
Approved on: 2023-08-04
Published on: 2023-08-04
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.