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NM_000059.4(BRCA2):c.571G>A (p.Asp191Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 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:
RCV004524691.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.571G>A (p.Asp191Asn)]

NM_000059.4(BRCA2):c.571G>A (p.Asp191Asn)

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.571G>A (p.Asp191Asn)
HGVS:
  • NC_000013.11:g.32326553G>A
  • NG_012772.3:g.16074G>A
  • NM_000059.4:c.571G>AMANE SELECT
  • NM_001406719.1:c.571G>A
  • NM_001406720.1:c.571G>A
  • NM_001406721.1:c.571G>A
  • NM_001406722.1:c.202G>A
  • NP_000050.2:p.Asp191Asn
  • NP_000050.3:p.Asp191Asn
  • NP_001393648.1:p.Asp191Asn
  • NP_001393649.1:p.Asp191Asn
  • NP_001393650.1:p.Asp191Asn
  • NP_001393651.1:p.Asp68Asn
  • LRG_293t1:c.571G>A
  • LRG_293:g.16074G>A
  • LRG_293p1:p.Asp191Asn
  • NC_000013.10:g.32900690G>A
  • NM_000059.3:c.571G>A
  • NR_176251.1:n.770G>A
Protein change:
D191N
Molecular consequence:
  • NM_000059.4:c.571G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406719.1:c.571G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406720.1:c.571G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406721.1:c.571G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406722.1:c.202G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176251.1:n.770G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV005028545Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 23, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.

Lai KN, Ho WK, Kang IN, Kang PC, Phuah SY, Mariapun S, Yip CH, Mohd Taib NA, Teo SH.

BMC Cancer. 2017 Feb 22;17(1):149. doi: 10.1186/s12885-017-3099-6.

PubMed [citation]
PMID:
28222693
PMCID:
PMC5320733

Details of each submission

From Ambry Genetics, SCV005028545.1

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

Description

The p.D191N variant (also known as c.571G>A), located in coding exon 6 of the BRCA2 gene, results from a G to A substitution at nucleotide position 571. The aspartic acid at codon 191 is replaced by asparagine, an amino acid with highly similar properties. In a large case-control study using multi-ethnic Asian cohorts, this variant was detected in 5/1218 individuals diagnosed with breast cancer and 11/1464 healthy controls (Lai KN et al. BMC Cancer, 2017 Feb;17:149). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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 8, 2024