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]
  • Despite there being a valid 'cspec' property in the messages there's a discrepancy in message contents and CSPEC data: * Message Gene: CDH1 CSPEC Genes: [ 'CDH1' ] * Message MONDOs: MONDO:0100488 CSPEC MONDO: [ 'MONDO:0007648' ]
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_004360.4(CDH1):c.-124-161C>A

CA122000

12247 (ClinVar)

Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 2f807d0a-bebc-49a4-9156-a324ecb1e52b
Approved on: 2023-08-10
Published on: 2023-08-10

HGVS expressions

NM_004360.4(CDH1):c.-124-161C>A
NC_000016.10:g.68737131C>A
CM000678.2:g.68737131C>A
NC_000016.9:g.68771034C>A
CM000678.1:g.68771034C>A
NC_000016.8:g.67328535C>A
NG_008021.1:g.4840C>A
More

Benign

Met criteria codes 2
BP2 BA1
Not Met criteria codes 24
BS2 BS3 BS4 BS1 BP7 BP5 BP3 BP4 BP1 PVS1 PS1 PS3 PS2 PS4 PP3 PP2 PP1 PP4 PM6 PM2 PM4 PM5 PM1 PM3

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 NM_004360.4(CDH1):c.-124-161C>A variant has an allele frequency of 0.27733 (27.73%, 4262/15368 alleles, 578 homozygotes) in the European (Non-Finnish) 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.
Met criteria codes
BP2
578 European (Non-Finnish) homozygotes in the controls cohort in gnomAD v2.1.1
BA1
MAF > 0.2%: European (Non-Finnish) AF is 0.27733 (4262/15368 alleles, 578 homozygotes in gnomAD v2.1.1)
Not Met criteria codes
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
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
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
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
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
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
Curation History
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