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NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 4, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000221445.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)]

NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)

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.323A>G (p.Asn108Ser)
HGVS:
  • NC_000013.11:g.32325082A>G
  • NG_012772.3:g.14603A>G
  • NM_000059.4:c.323A>GMANE SELECT
  • NP_000050.2:p.Asn108Ser
  • NP_000050.3:p.Asn108Ser
  • LRG_293t1:c.323A>G
  • LRG_293:g.14603A>G
  • LRG_293p1:p.Asn108Ser
  • NC_000013.10:g.32899219A>G
  • NM_000059.3:c.323A>G
  • U43746.1:n.551A>G
  • p.N108S
Nucleotide change:
551A>G
Protein change:
N108S
Links:
dbSNP: rs80358568
NCBI 1000 Genomes Browser:
rs80358568
Molecular consequence:
  • NM_000059.4:c.323A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000279279GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 9, 2023) 		germlineclinical testing

Citation Link,

SCV002046325Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Aug 4, 2023) 		unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.

Cotrim DP, Ribeiro ARG, Paixão D, de Queiroz Soares DC, Jbili R, Pandolfi NC, Cezana C, de Cássia Mauro C, Mantoan H, Bovolim G, de Brot L, Torrezan GT, Carraro DM, Baiocchi G, da Cruz Formiga MN, da Costa AABA.

BMC Cancer. 2019 Jan 3;19(1):4. doi: 10.1186/s12885-018-5235-3.

PubMed [citation]
PMID:
30606148
PMCID:
PMC6319008

An integrated in silico approach to analyze the involvement of single amino acid polymorphisms in FANCD1/BRCA2-PALB2 and FANCD1/BRCA2-RAD51 complex.

Doss CG, Nagasundaram N.

Cell Biochem Biophys. 2014 Nov;70(2):939-56. doi: 10.1007/s12013-014-0002-9.

PubMed [citation]
PMID:
24817641
See all PubMed Citations (6)

Details of each submission

From GeneDx, SCV000279279.12

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 551A>G; This variant is associated with the following publications: (PMID: 21702907, 24817641, 32467295, 30606148)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046325.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

In the published literature, this variant has been reported in individuals/families with history of breast and/or ovarian cancer (PMID: 30606148 (2019), 28338653 (2017), 10755399 (2000)). In a large scale breast cancer association study, the variant was observed individuals with breast cancer as well unaffected control individuals (PMID: 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/BRCA2)). The frequency of this variant in the general population, 0.00044 (8/18378 chromosomes in East Asian subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Sep 29, 2024