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NM_007294.3(BRCA1):c.4675G>A (p.Glu1559Lys) AND Breast-ovarian cancer, familial 1

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Oct 2, 2015
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:
RCV000031185.5

Allele description

NM_007294.3(BRCA1):c.4675G>A (p.Glu1559Lys)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.4675G>A (p.Glu1559Lys)
HGVS:
  • NC_000017.11:g.43074331C>T
  • NG_005905.2:g.143653G>A
  • NM_007294.3:c.4675G>A
  • NM_007297.4:c.4534G>A
  • NM_007298.3:c.1363G>A
  • NM_007299.4:c.1363G>A
  • NM_007300.4:c.4738G>A
  • NP_009225.1:p.Glu1559Lys
  • NP_009228.2:p.Glu1512Lys
  • NP_009229.2:p.Glu455Lys
  • NP_009230.2:p.Glu455Lys
  • NP_009231.2:p.Glu1580Lys
  • LRG_292t1:c.4675G>A
  • LRG_292t1:c.4675G>A
  • LRG_292:g.143653G>A
  • LRG_292p1:p.Glu1559Lys
  • NC_000017.10:g.41226348C>T
  • NR_027676.1:n.4811G>A
  • U14680.1:n.4794G>A
  • p.E1559K
Nucleotide change:
4794G>A
Protein change:
E1512K
Links:
dbSNP: rs80356988
NCBI 1000 Genomes Browser:
rs80356988
Molecular consequence:
  • NM_007294.3:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.3:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

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:
MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000053785Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Pathogenic
(May 1, 2012)
germlineclinical testing

SCV000145148Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Pathogenic
(Nov 25, 2004)
germlineclinical testing

SCV000326020Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided4not providednot providednot providedclinical testing
not providedgermlinenot provided3not providednot provided3not providedclinical testing
Western European, Dutchgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053785.5

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

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145148.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2Western European, Dutch1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326020.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided4not provided

Last Updated: Feb 1, 2020