Evidence Repository - Clinical Genome Resources

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

Variant: NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter)

CA396470822

428624 (ClinVar)

Gene: CDH1 (HGNC:999)

Condition: CDH1-related diffuse gastric and lobular breast cancer (MONDO:0007648)

Inheritance Mode: Autosomal dominant inheritance

UUID: a900acc8-7a69-4034-a12b-01fa5d64d142

Approved on: 2023-08-04

Published on: 2023-08-04

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

PVS1 PM5_Supporting PM2_Supporting

PM3 PM1 PM4 PM6 BA1 BS2 BS4 BS3 BS1 BP5 BP7 BP2 BP3 BP4 BP1 PS2 PS3 PS1 PS4 PP4 PP1 PP3 PP2

Evidence Links 0

Expert Panel

CDH1 VCEP

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.

PVS1

Premature termination occurs upstream of the NMD boundary

PM5_Supporting

Premature termination occurs upstream of the NMD boundary

PM2_Supporting

Absent in gnomAD population database

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

BA1

Absent in gnomAD population database

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

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

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

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)

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

Curation History

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