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NM_000059.4(BRCA2):c.5244C>A (p.Ser1748Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 22, 2017
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:
RCV000656796.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.5244C>A (p.Ser1748Arg)]

NM_000059.4(BRCA2):c.5244C>A (p.Ser1748Arg)

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.5244C>A (p.Ser1748Arg)
Other names:
p.S1748R:AGC>AGA
HGVS:
  • NC_000013.11:g.32339599C>A
  • NG_012772.3:g.29120C>A
  • NM_000059.4:c.5244C>AMANE SELECT
  • NP_000050.2:p.Ser1748Arg
  • NP_000050.3:p.Ser1748Arg
  • LRG_293t1:c.5244C>A
  • LRG_293:g.29120C>A
  • LRG_293p1:p.Ser1748Arg
  • NC_000013.10:g.32913736C>A
  • NM_000059.3:c.5244C>A
Nucleotide change:
5472C>A
Protein change:
S1748R
Links:
dbSNP: rs398122528
NCBI 1000 Genomes Browser:
rs398122528
Molecular consequence:
  • NM_000059.4:c.5244C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000210348GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 22, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000210348.13

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

Description

This variant is denoted BRCA2 c.5244C>A at the cDNA level, p.Ser1748Arg (S1748R) at the protein level, and results in the change of a Serine to an Arginine (AGC>AGA). Using alternate nomenclature, this variant would be defined as BRCA2 5472C>A. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Ser1748Arg was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Serine and Arginine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Ser1748Arg occurs at a position that is not conserved and is located within the RAD51 and POLH binding domains (Roy 2012, Buisson 2014). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA2 Ser1748Arg is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024