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NM_000059.4(BRCA2):c.3992C>G (p.Ser1331Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 23, 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:
RCV003157888.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.3992C>G (p.Ser1331Cys)]

NM_000059.4(BRCA2):c.3992C>G (p.Ser1331Cys)

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.3992C>G (p.Ser1331Cys)
HGVS:
  • NC_000013.11:g.32338347C>G
  • NG_012772.3:g.27868C>G
  • NM_000059.4:c.3992C>GMANE SELECT
  • NM_001406719.1:c.3992C>G
  • NM_001406720.1:c.3992C>G
  • NP_000050.2:p.Ser1331Cys
  • NP_000050.3:p.Ser1331Cys
  • NP_001393648.1:p.Ser1331Cys
  • NP_001393649.1:p.Ser1331Cys
  • LRG_293t1:c.3992C>G
  • LRG_293:g.27868C>G
  • LRG_293p1:p.Ser1331Cys
  • NC_000013.10:g.32912484C>G
  • NM_000059.3:c.3992C>G
  • NR_176251.1:n.4191C>G
Protein change:
S1331C
Molecular consequence:
  • NM_000059.4:c.3992C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406719.1:c.3992C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406720.1:c.3992C>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003848590University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Dines et al. (Genet Med. 2020))		Likely benign
(Mar 23, 2023) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC.

Genet Med. 2020 May;22(5):825-830. doi: 10.1038/s41436-019-0740-6. Epub 2020 Jan 8.

PubMed [citation]
PMID:
31911673
PMCID:
PMC7200594

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003848590.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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

Last Updated: Sep 29, 2024