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NM_000059.4(BRCA2):c.451G>A (p.Val151Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 22, 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:
RCV000561223.5

Allele description [Variation Report for NM_000059.4(BRCA2):c.451G>A (p.Val151Ile)]

NM_000059.4(BRCA2):c.451G>A (p.Val151Ile)

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.451G>A (p.Val151Ile)
HGVS:
  • NC_000013.11:g.32326126G>A
  • NG_012772.3:g.15647G>A
  • NM_000059.4:c.451G>AMANE SELECT
  • NP_000050.2:p.Val151Ile
  • NP_000050.3:p.Val151Ile
  • LRG_293t1:c.451G>A
  • LRG_293:g.15647G>A
  • LRG_293p1:p.Val151Ile
  • NC_000013.10:g.32900263G>A
  • NM_000059.3:c.451G>A
Nucleotide change:
679G>A
Protein change:
V151I
Links:
dbSNP: rs397507335
NCBI 1000 Genomes Browser:
rs397507335
Molecular consequence:
  • NM_000059.4:c.451G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000668747Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(May 22, 2023)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.

Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Goina E, Acedo A, Buratti E, Velasco EA.

J Pathol. 2019 Aug;248(4):409-420. doi: 10.1002/path.5268. Epub 2019 Apr 23.

PubMed [citation]
PMID:
30883759

Details of each submission

From Ambry Genetics, SCV000668747.6

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

Description

The p.V151I variant (also known as c.451G>A), located in coding exon 4 of the BRCA2 gene, results from a G to A substitution at nucleotide position 451. The valine at codon 151 is replaced by isoleucine, an amino acid with highly similar properties. A minigene assay demonstrated that this alteration results in skipping of coding exon 4 in over 89% of transcripts (Fraile-Bethencourt E et al. J Pathol, 2019 08;248:409-420); however RNA studies have demonstrated that this alteration does not result in abnormal splicing in the set of samples tested (Ambry internal data). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024