NM_000059.4(BRCA2):c.4045A>G (p.Ile1349Val) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 6, 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:
RCV003234787.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.4045A>G (p.Ile1349Val)]

NM_000059.4(BRCA2):c.4045A>G (p.Ile1349Val)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.4045A>G (p.Ile1349Val)
HGVS:
  • NC_000013.11:g.32338400A>G
  • NG_012772.3:g.27921A>G
  • NM_000059.4:c.4045A>GMANE SELECT
  • NP_000050.2:p.Ile1349Val
  • NP_000050.3:p.Ile1349Val
  • LRG_293t1:c.4045A>G
  • LRG_293:g.27921A>G
  • LRG_293p1:p.Ile1349Val
  • NC_000013.10:g.32912537A>G
  • NM_000059.3:c.4045A>G
Protein change:
I1349V
Links:
dbSNP: rs780544697
NCBI 1000 Genomes Browser:
rs780544697
Molecular consequence:
  • NM_000059.4:c.4045A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003932722KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 6, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV003932722.1

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

Description

Also, a variant of uncertain significant was detected in the BRCA2 gene. This sequence change substitutes valine for isoleucine at codon 1349. This variant is listed in the population database (ExAC frequency 0.004%). As far as we known, this variant has not been reported in families with breast or ovarian cancer. In silico predictions show this variant to be Polyphen: “benign” and SIFT: “tolerated”. ClinVar has an entry for this variant (ClinVar 545615). In summary, this variant is considered to be of uncertain significant. Genetic counseling is recommended.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024