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.48+5C>G

CA163551

140784 (ClinVar)

Gene: CDH1

Condition: CDH1-related diffuse gastric and lobular breast cancer

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 1f5a92b8-7747-42bb-83cd-f8c57088c41b

HGVS expressions

NM_004360.5:c.48+5C>G

NM_004360.5(CDH1):c.48+5C>G

NC_000016.10:g.68737468C>G

CM000678.2:g.68737468C>G

NC_000016.9:g.68771371C>G

CM000678.1:g.68771371C>G

NC_000016.8:g.67328872C>G

NG_008021.1:g.5177C>G

ENST00000261769.10:c.48+5C>G

ENST00000261769.9:c.48+5C>G

ENST00000422392.6:c.48+5C>G

ENST00000566510.5:c.48+5C>G

ENST00000566612.5:c.48+5C>G

ENST00000611625.4:c.48+5C>G

ENST00000612417.4:c.48+5C>G

ENST00000621016.4:c.48+5C>G

NM_004360.3:c.48+5C>G

NM_001317184.1:c.48+5C>G

NM_001317185.1:c.-1568+5C>G

NM_001317186.1:c.-1772+5C>G

NM_004360.4:c.48+5C>G

NM_001317184.2:c.48+5C>G

NM_001317185.2:c.-1568+5C>G

NM_001317186.2:c.-1772+5C>G

Benign

BP2 BA1

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

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.48+5C>G variant has an allele frequency of 0.11584 (11.584%, 1670/14416 alleles, 98 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.

BP2

Ninety-eight Africa homozygotes in the controls cohort in gnomAD v2.1.1

BA1

MAF > 0.2%: African AF is 0.11584 (1670/14416 alleles, 98 homozygotes in gnomAD v2.1.1)

BS2

Not assessed, because BA1 met

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

BS4

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

BP7

Not assessed, because BA1 met

BP5

Not assessed, because BA1 met

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

BP3

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

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

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

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

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

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

PM4

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

Approved on: 2023-08-10

Published on: 2023-08-10

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