NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly) AND Breast-ovarian cancer, familial 1

Clinical significance:Benign (Last evaluated: Aug 10, 2015)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000083226.5

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]
Observations:
5

Condition(s)

Name:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000115300Sharing Clinical Reports Project (SCRP)no assertion criteria providedBenign
(May 1, 2012)

History

germlineclinical testing

SCV000145700Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(Mar 25, 1998)
germlineclinical testing

SCV000244413Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Benign
(Aug 10, 2015)
germlinecuration

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

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided3not providednot provided3not providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
Latin American, Caribbeangermlineyes1not providednot providednot providednot providedclinical testing
Latinogermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115300.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided3not providednot providednot providednot providednot provided See 1

Co-occurrences

#ZygosityAllelesNumber of Observations
1SingleHeterozygoteBRCA1:943ins101

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145700.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Latin American, Caribbean1not providednot providedclinical testingnot provided
2Latino1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244413.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000767

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

Last Updated: Sep 18, 2021

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