The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • There was no gene found in the curated document received from the VCI/VCEP
  • Gene listed was thus derived from ClinVar and/or CAR
  • No CSPEC related information was provided by the message!

  • See Evidence submitted by expert panel for details.

Variant: NC_000005.10:g.(?_112775619)_(112801393_?)del

642643 (ClinVar)

Gene: APC
Condition: familial adenomatous polyposis 1
Inheritance Mode: Autosomal dominant inheritance
UUID: 5bee178f-c9b5-4102-8807-f297a0daa4ec
Approved on: 2023-02-26
Published on: 2023-03-14

HGVS expressions

NC_000005.10:g.(?_112775619)_(112801393_?)del

Likely Pathogenic

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"
Met criteria codes 2
PM2_Supporting PVS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
InSiGHT Hereditary Colorectal Cancer/Polyposis VCEP
The NC_000005.10:g.(?_112775619)_(112801393_?)del variant in APC is a deletion predicted to result in an out-of-frame deletion of exons 5-8 in a gene in which loss-of-function is an established disease (PVS1). This variant is absent from gnomAD SVs v2.1 (PM2_Supporting). In summary, this variant meets the criteria to be classified as of Likely Pathogenic for FAP based on the ACMG/AMP criteria applied, as specified by the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel: PVS1, PM2_Supporting (VCEP specifications version 1; date of approval: 12/12/2022).
Met criteria codes
PM2_Supporting
This variant is absent from gnomAD SVs v2.1 (PM2_Supporting).
PVS1
The deletion exons 4-7; NC_000005.10:g.(?_112775619)_(112801393_?)del (NM_000038.6) variant in APC is a deletion variant in APC predicted to result in an out of frame deletion of exon(s) 4-7 in a gene in which loss-of-function is an established disease (PVS1).
Curation History
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