The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • No CSPEC related information was provided by the message!

  • See Evidence submitted by expert panel for details.

CA915942594

822187 (ClinVar)

Gene: APC
Condition: familial adenomatous polyposis 1
Inheritance Mode: Autosomal dominant inheritance
UUID: f51c0994-bf0d-42bc-b219-f1fe7018971c
Approved on: 2023-02-18
Published on: 2023-03-14

HGVS expressions

NM_000038.6:c.1105TTG[1]
NC_000005.10:g.112819140_112819142del
CM000667.2:g.112819140_112819142del
NC_000005.9:g.112154837_112154839del
CM000667.1:g.112154837_112154839del
NC_000005.8:g.112182736_112182738del
NG_008481.4:g.131620_131622del
ENST00000257430.9:c.1108_1110del
ENST00000257430.8:c.1108_1110del
ENST00000507379.5:c.1054_1056del
ENST00000508376.6:c.1108_1110del
ENST00000508624.5:c.*430_*432del
ENST00000512211.6:c.1108_1110del
NM_000038.5:c.1108_1110del
NM_001127510.2:c.1108_1110del
NM_001127511.2:c.1054_1056del
NM_001354895.1:c.1108_1110del
NM_001354896.1:c.1108_1110del
NM_001354897.1:c.1138_1140del
NM_001354898.1:c.1033_1035del
NM_001354899.1:c.1024_1026del
NM_001354900.1:c.931_933del
NM_001354901.1:c.931_933del
NM_001354902.1:c.964-129_964-127del
NM_001354903.1:c.934-129_934-127del
NM_001354904.1:c.859-129_859-127del
NM_001354905.1:c.757-129_757-127del
NM_001354906.1:c.259_261del
NM_000038.6:c.1108_1110del
NM_001127510.3:c.1108_1110del
NM_001127511.3:c.1054_1056del
NM_001354895.2:c.1108_1110del
NM_001354896.2:c.1108_1110del
NM_001354897.2:c.1138_1140del
NM_001354898.2:c.1033_1035del
NM_001354899.2:c.1024_1026del
NM_001354900.2:c.931_933del
NM_001354901.2:c.931_933del
NM_001354902.2:c.964-129_964-127del
NM_001354903.2:c.934-129_934-127del
NM_001354904.2:c.859-129_859-127del
NM_001354905.2:c.757-129_757-127del
NM_001354906.2:c.259_261del
NM_000038.6(APC):c.1105TTG[1] (p.Leu370del)
More

Uncertain Significance

Met criteria codes 1
PM2_Supporting
Not Met criteria codes 1
PM4

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 c.1105TTG[1] or c.1108_1110del variant in APC is predicted to cause a change in the length of the protein due to an in-frame deletion of 1 amino acid (p.Leu370del). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). This variant was not observed in internal data from Ambry Genetics, Invitae, Bonn or Melbourne. In summary, this variant meets the criteria to be classified as a Variant of Uncertain Significance (VUS) for FAP based on the ACMG/AMP criteria applied, as specified by the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel: PM2_Supporting (VCEP specifications version 1.0; date of approval: 12/12/2022).
Met criteria codes
PM2_Supporting
This variant is absent from gnomAD v2.1.1 (PM2_Supporting).
Not Met criteria codes
PM4
Not used by InSiGHT VCEP
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.