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NM_007294.3(BRCA1):c.1155G>T (p.Trp385Cys) AND Hereditary breast and ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 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:
RCV000226202.1

Allele description

NM_007294.3(BRCA1):c.1155G>T (p.Trp385Cys)

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.1155G>T (p.Trp385Cys)
HGVS:
  • NC_000017.11:g.43094376C>A
  • NG_005905.2:g.123608G>T
  • NM_007294.3:c.1155G>T
  • NM_007298.3:c.787+368G>T
  • NP_009225.1:p.Trp385Cys
  • LRG_292t1:c.1155G>T
  • LRG_292:g.123608G>T
  • LRG_292p1:p.Trp385Cys
  • NC_000017.10:g.41246393C>A
  • NR_027676.1:n.1291G>T
Protein change:
W385C
Links:
dbSNP: rs876660558
NCBI 1000 Genomes Browser:
rs876660558
Molecular consequence:
  • NM_007298.3:c.787+368G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.1155G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.1:n.1291G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer
Identifiers:
MedGen: C0677776; Orphanet: 145
Prevalence:
http://www.ncbi.nlm.nih.gov/books/NBK1247/ https://www.ncbi.nlm.nih.gov/books/NBK1247

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000289738Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 6, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Invitae, SCV000289738.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This sequence change replaces tryptophan with cysteine at codon 385 of the BRCA1 protein (p.Trp385Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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

Last Updated: Mar 25, 2017