NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly) AND not provided

Clinical significance:Benign (Last evaluated: Aug 19, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000758852.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly)]

NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly)
HGVS:
  • NC_000017.11:g.43094692G>C
  • NG_005905.2:g.123292C>G
  • NM_007294.3:c.839C>G
  • NM_007294.4:c.839C>GMANE SELECT
  • NM_007297.4:c.698C>G
  • NM_007298.3:c.787+52C>G
  • NM_007299.4:c.787+52C>G
  • NM_007300.4:c.839C>G
  • NP_009225.1:p.Ala280Gly
  • NP_009225.1:p.Ala280Gly
  • NP_009228.2:p.Ala233Gly
  • NP_009231.2:p.Ala280Gly
  • LRG_292t1:c.839C>G
  • LRG_292:g.123292C>G
  • LRG_292p1:p.Ala280Gly
  • NC_000017.10:g.41246709G>C
  • NM_007294.4:c.839C>G
  • NR_027676.2:n.1016C>G
  • U14680.1:n.958C>G
  • p.A280G
Nucleotide change:
958C>G
Protein change:
A233G
Links:
BRCA1-HCI: BRCA1_00059; dbSNP: rs80357199
NCBI 1000 Genomes Browser:
rs80357199
Molecular consequence:
  • NM_007298.3:c.787+52C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+52C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.839C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.839C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.698C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.839C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.1016C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000887739Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Benign
(Aug 19, 2019)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

A guide for functional analysis of BRCA1 variants of uncertain significance.

Millot GA, Carvalho MA, Caputo SM, Vreeswijk MP, Brown MA, Webb M, Rouleau E, Neuhausen SL, Hansen Tv, Galli A, Brandão RD, Blok MJ, Velkova A, Couch FJ, Monteiro AN; ENIGMA Consortium Functional Assay Working Group..

Hum Mutat. 2012 Nov;33(11):1526-37. doi: 10.1002/humu.22150. Epub 2012 Jul 16. Review.

PubMed [citation]
PMID:
22753008
PMCID:
PMC3470782

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]
PMID:
21990134
PMCID:
PMC3242438
See all PubMed Citations (6)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000887739.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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