NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) AND Breast-ovarian cancer, familial 1

Clinical significance:Likely pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000112539.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)]

NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)

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.5154G>T (p.Trp1718Cys)
HGVS:
  • NC_000017.11:g.43063372C>A
  • NG_005905.2:g.154612G>T
  • NM_007294.3:c.5154G>T
  • NM_007294.4:c.5154G>TMANE SELECT
  • NM_007297.4:c.5013G>T
  • NM_007298.3:c.1842G>T
  • NM_007299.4:c.1842G>T
  • NM_007300.4:c.5217G>T
  • NP_009225.1:p.Trp1718Cys
  • NP_009225.1:p.Trp1718Cys
  • NP_009228.2:p.Trp1671Cys
  • NP_009229.2:p.Trp614Cys
  • NP_009230.2:p.Trp614Cys
  • NP_009231.2:p.Trp1739Cys
  • LRG_292t1:c.5154G>T
  • LRG_292:g.154612G>T
  • LRG_292p1:p.Trp1718Cys
  • NC_000017.10:g.41215389C>A
  • NR_027676.2:n.5331G>T
  • P38398:p.Trp1718Cys
  • U14680.1:n.5273G>T
  • p.W1718C
Protein change:
W1671C
Links:
UniProtKB: P38398#VAR_070503; dbSNP: rs80357239
NCBI 1000 Genomes Browser:
rs80357239
Molecular consequence:
  • NM_007294.3:c.5154G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5154G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5013G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.3:c.1842G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1842G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5217G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5331G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
Observations:
2

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
SCV000145362Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significancegermlineclinical testing

SCV001140483Mendelicscriteria provided, single submitter
Likely pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link,

SCV001237787Brotman Baty Institute,University of Washingtonno assertion providednot providednot applicablein vitro

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145362.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Mendelics, SCV001140483.1

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

From Brotman Baty Institute,University of Washington, SCV001237787.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 14, 2021

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