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]

Link to SEPIO compliant JSON-LD document

Variant: NM_004360.5(CDH1):c.*1176T>G

CA10648801

320292 (ClinVar)

Gene: CDH1

Condition: CDH1-related diffuse gastric and lobular breast cancer

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 493abd91-c241-48d5-94df-8d6a77b5b0dc

HGVS expressions

NM_004360.5:c.*1176T>G

NM_004360.5(CDH1):c.*1176T>G

NC_000016.10:g.68834675T>G

CM000678.2:g.68834675T>G

NC_000016.9:g.68868578T>G

CM000678.1:g.68868578T>G

NC_000016.8:g.67426079T>G

NG_008021.1:g.102384T>G

ENST00000261769.10:c.*1176T>G

ENST00000261769.9:c.*1176T>G

ENST00000566612.5:c.*2065T>G

ENST00000611625.4:c.*1176T>G

ENST00000621016.4:c.*394T>G

NM_004360.3:c.*1176T>G

NM_001317184.1:c.*1176T>G

NM_001317185.1:c.*1176T>G

NM_001317186.1:c.*1176T>G

NM_004360.4:c.*1176T>G

NM_001317184.2:c.*1176T>G

NM_001317185.2:c.*1176T>G

NM_001317186.2:c.*1176T>G

Benign

BA1 BP2

PP3 PP2 PP1 PP4 PM6 PM2 PVS1 PM4 PM5 PM3 PM1 BS4 BS3 BS1 BS2 BP7 BP5 BP3 BP4 BP1 PS1 PS4 PS2 PS3

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 NM_004360.5(CDH1):c.*1176T>G variant has an allele frequency of 0.04739 (4.739%, 413/8714 alleles, 12 homozygotes) in the African subpopulation of the gnomAD v2.1.1 cohort (BA1; BP2). Therefore, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BA1, BP2.

BA1

MAF > 0.2%: African AF is 0.04739 (413/8714 alleles, 12 homozygotes in gnomAD v2.1.1)

BP2

Twelve Afirica homozygotes in the controls cohort in gnomAD v2.1.1

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

PP4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

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

PVS1

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

PM3

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

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

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BS2

Not assessed, because BA1 met

BP7

Not assessed, because BA1 met

BP5

Not assessed, because BA1 met

BP3

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BP4

Not assessed, because BA1 met

BP1

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

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

PS3

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Approved on: 2023-08-10

Published on: 2023-08-10

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