NM_007294.3(BRCA1):c.4057G>T (p.Glu1353Ter) AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Sep 8, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000112236.3

Allele description

NM_007294.3(BRCA1):c.4057G>T (p.Glu1353Ter)

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.4057G>T (p.Glu1353Ter)
HGVS:
  • NC_000017.11:g.43091474C>A
  • NG_005905.2:g.126510G>T
  • NM_007294.3:c.4057G>T
  • NM_007298.3:c.788-442G>T
  • NP_009225.1:p.Glu1353Ter
  • LRG_292t1:c.4057G>T
  • LRG_292:g.126510G>T
  • LRG_292p1:p.Glu1353Ter
  • NC_000017.10:g.41243491C>A
  • NR_027676.1:n.4193G>T
  • U14680.1:n.4176G>T
Protein change:
E1353*
Links:
dbSNP: rs80357178
NCBI 1000 Genomes Browser:
rs80357178
Molecular consequence:
  • NM_007298.3:c.788-442G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.4193G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_007294.3:c.4057G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
3

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
SCV000144950Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedPathogenic
(May 29, 2002)
germlineclinical testing

SCV000267708Michigan Medical Genetics Laboratories,University of Michigancriteria provided, single submitter
Pathogenic
(Apr 21, 2016)
germlineclinical testing

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

SCV000300064Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Pathogenic
(Sep 8, 2016)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144950.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Central/Eastern European1not providednot providedclinical testingnot provided
2Western European2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided2not providednot providednot provided

From Michigan Medical Genetics Laboratories,University of Michigan, SCV000267708.1

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300064.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

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

Last Updated: Jul 21, 2018