NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) AND none provided

Clinical significance:Uncertain significance (Last evaluated: Jun 8, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001289567.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)]

NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)

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.9986A>G (p.Asn3329Ser)
HGVS:
  • NC_000013.11:g.32398499A>G
  • NG_012772.3:g.88020A>G
  • NM_000059.3:c.9986A>G
  • NM_000059.4:c.9986A>GMANE SELECT
  • NP_000050.2:p.Asn3329Ser
  • NP_000050.3:p.Asn3329Ser
  • LRG_293t1:c.9986A>G
  • LRG_293:g.88020A>G
  • LRG_293p1:p.Asn3329Ser
  • NC_000013.10:g.32972636A>G
  • p.N3329S
Protein change:
N3329S
Links:
dbSNP: rs76635144
NCBI 1000 Genomes Browser:
rs76635144
Molecular consequence:
  • NM_000059.3:c.9986A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000059.4:c.9986A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001477524ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Jun 8, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001477524.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRCA2 c.9986A>G; p.Asn3329Ser variant (rs76635144) is reported in the literature in a family affected with breast or ovarian cancer, but without clear evidence for disease association (Zuntini 2018). This variant is reported in ClinVar (Variation ID: 141780), and is only observed on six alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The asparagine at codon 3329 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Asn3329Ser variant is uncertain at this time. References: Zuntini R et al. Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?. Front Genet. 2018;9:378.

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

Last Updated: Jun 14, 2021

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