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NM_000038.6(APC):c.4813G>A (p.Val1605Met) AND Classic or attenuated familial adenomatous polyposis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 26, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004003533.2

Allele description [Variation Report for NM_000038.6(APC):c.4813G>A (p.Val1605Met)]

NM_000038.6(APC):c.4813G>A (p.Val1605Met)

Gene:
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.6(APC):c.4813G>A (p.Val1605Met)
HGVS:
  • NC_000005.10:g.112840407G>A
  • NG_008481.4:g.152887G>A
  • NM_000038.6:c.4813G>AMANE SELECT
  • NM_001127510.3:c.4813G>A
  • NM_001127511.3:c.4759G>A
  • NM_001354895.2:c.4813G>A
  • NM_001354896.2:c.4867G>A
  • NM_001354897.2:c.4843G>A
  • NM_001354898.2:c.4738G>A
  • NM_001354899.2:c.4729G>A
  • NM_001354900.2:c.4690G>A
  • NM_001354901.2:c.4636G>A
  • NM_001354902.2:c.4540G>A
  • NM_001354903.2:c.4510G>A
  • NM_001354904.2:c.4435G>A
  • NM_001354905.2:c.4333G>A
  • NM_001354906.2:c.3964G>A
  • NP_000029.2:p.Val1605Met
  • NP_001120982.1:p.Val1605Met
  • NP_001120983.2:p.Val1587Met
  • NP_001341824.1:p.Val1605Met
  • NP_001341825.1:p.Val1623Met
  • NP_001341826.1:p.Val1615Met
  • NP_001341827.1:p.Val1580Met
  • NP_001341828.1:p.Val1577Met
  • NP_001341829.1:p.Val1564Met
  • NP_001341830.1:p.Val1546Met
  • NP_001341831.1:p.Val1514Met
  • NP_001341832.1:p.Val1504Met
  • NP_001341833.1:p.Val1479Met
  • NP_001341834.1:p.Val1445Met
  • NP_001341835.1:p.Val1322Met
  • LRG_130:g.152887G>A
  • NC_000005.9:g.112176104G>A
  • NM_000038.5:c.4813G>A
Protein change:
V1322M
Links:
dbSNP: rs1554086219
NCBI 1000 Genomes Browser:
rs1554086219
Molecular consequence:
  • NM_000038.6:c.4813G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127510.3:c.4813G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127511.3:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354895.2:c.4813G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354896.2:c.4867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354897.2:c.4843G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354898.2:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354899.2:c.4729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354900.2:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354901.2:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354902.2:c.4540G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354903.2:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354904.2:c.4435G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354905.2:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354906.2:c.3964G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Classic or attenuated familial adenomatous polyposis
Identifiers:
MONDO: MONDO:0021057; MedGen: CN372698

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004837971All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Jun 26, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot provided108544not providedclinical testing

Citations

PubMed

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, et al.

BMC Cancer. 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4.

PubMed [citation]
PMID:
31159747
PMCID:
PMC6547505

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004837971.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)

Description

This missense variant replaces valine with methionine at codon 1605 of the APC protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been observed in an individual with personal or family history of breast and/or ovarian cancer (PMID: 31159747). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided2not providednot providednot provided

Last Updated: Oct 13, 2024