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NM_000059.4(BRCA2):c.2927_2929del (p.Ser976del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2024
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:
RCV001017518.5

Allele description [Variation Report for NM_000059.4(BRCA2):c.2927_2929del (p.Ser976del)]

NM_000059.4(BRCA2):c.2927_2929del (p.Ser976del)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.2927_2929del (p.Ser976del)
HGVS:
  • NC_000013.11:g.32337282_32337284del
  • NG_012772.3:g.26803_26805del
  • NM_000059.4:c.2927_2929delMANE SELECT
  • NP_000050.2:p.Ser976del
  • NP_000050.3:p.Ser976del
  • LRG_293t1:c.2927_2929del
  • LRG_293:g.26803_26805del
  • LRG_293p1:p.Ser976del
  • NC_000013.10:g.32911417_32911419del
  • NC_000013.10:g.32911419_32911421del
  • NM_000059.3:c.2927_2929del
  • NM_000059.3:c.2927_2929delCCT
  • U43746.1:n.3155_3157delCCT
  • p.S976del
Protein change:
S976del
Links:
dbSNP: rs80359363
NCBI 1000 Genomes Browser:
rs80359363
Molecular consequence:
  • NM_000059.4:c.2927_2929del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV001178607Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 12, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays.

Schroeder C, Stutzmann F, Weber BH, Riess O, Bonin M.

Breast Cancer Res Treat. 2010 Jul;122(1):287-97. doi: 10.1007/s10549-009-0639-z. Epub 2009 Nov 26.

PubMed [citation]
PMID:
19941162

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.

Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.

PubMed [citation]
PMID:
30287823
PMCID:
PMC6172276
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001178607.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The c.2927_2929delCCT variant (also known as p.S976del) is located in coding exon 10 of the BRCA2 gene. This variant results from an in-frame CCT deletion at nucleotide positions 2927 to 2929. This results in the in-frame deletion of a serine at codon 976. This alteration has been reported in a Spanish patient with a personal or family history of breast and/or ovarian cancer (Beristain E et al. Breast Cancer Res Treat. 2007 Dec;106(2):255-62), in addition to control individuals (Momozawa Y et al. Nat Commun, 2018 10;9:4083; Fernández-Lopez JC et al. Hum Genomics, 2019 01;13:3). The deleted amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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: Sep 29, 2024