NM_000059.4(BRCA2):c.5286T>A (p.Tyr1762Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 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:
RCV002345333.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.5286T>A (p.Tyr1762Ter)]

NM_000059.4(BRCA2):c.5286T>A (p.Tyr1762Ter)

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.5286T>A (p.Tyr1762Ter)
Other names:
5514T>A
HGVS:
  • NC_000013.11:g.32339641T>A
  • NG_012772.3:g.29162T>A
  • NM_000059.4:c.5286T>AMANE SELECT
  • NP_000050.2:p.Tyr1762Ter
  • NP_000050.3:p.Tyr1762Ter
  • LRG_293t1:c.5286T>A
  • LRG_293:g.29162T>A
  • LRG_293p1:p.Tyr1762Ter
  • NC_000013.10:g.32913778T>A
  • NM_000059.3:c.5286T>A
  • U43746.1:n.5514T>A
Protein change:
Y1762*
Links:
dbSNP: rs80358754
NCBI 1000 Genomes Browser:
rs80358754
Molecular consequence:
  • NM_000059.4:c.5286T>A - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002643034Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 26, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Loss of heterozygosity at the BRCA2 locus detected by multiplex ligation-dependent probe amplification is common in prostate cancers from men with a germline BRCA2 mutation.

Willems AJ, Dawson SJ, Samaratunga H, De Luca A, Antill YC, Hopper JL, Thorne HJ; kConFab Investigators..

Clin Cancer Res. 2008 May 15;14(10):2953-61. doi: 10.1158/1078-0432.CCR-07-5237. Epub 2008 Apr 29.

PubMed [citation]
PMID:
18445692

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL, Johnson KJ, Lu C, McLellan MD, Leiserson MD, Wendl MC, Zhang Q, Koboldt DC, Xie M, Kandoth C, McMichael JF, Wyczalkowski MA, Larson DE, Schmidt HK, Miller CA, Fulton RS, Spellman PT, Mardis ER, Druley TE, Graubert TA, Goodfellow PJ, Raphael BJ, et al.

Nat Commun. 2014;5:3156. doi: 10.1038/ncomms4156.

PubMed [citation]
PMID:
24448499
PMCID:
PMC4025965
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002643034.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.Y1762* pathogenic mutation (also known as c.5286T>A), located in coding exon 10 of the BRCA2 gene, results from a T to A substitution at nucleotide position 5286. This changes the amino acid from a tyrosine to a stop codon within coding exon 10. This alteration has been reported in numerous families with breast, ovarian and/or prostate cancer (Willems AJ et al. Clin. Cancer Res., 2008 May;14:2953-61; Kanchi KL et al. Nat Commun, 2014;5:3156; Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620; Gorodnova T et al. Int. J. Gynecol. Cancer, 2019 05;29:779-786). Of note, this alteration is also designated as 5514T>A in the published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 16, 2024