NM_007294.3(BRCA1):c.949C>T (p.Gln317Ter) AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: May 1, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000083227.3

Allele description [Variation Report for NM_007294.3(BRCA1):c.949C>T (p.Gln317Ter)]

NM_007294.3(BRCA1):c.949C>T (p.Gln317Ter)

Gene:
BRCA1:breast cancer 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.949C>T (p.Gln317Ter)
HGVS:
  • NC_000017.11:g.43094582G>A
  • NG_005905.2:g.123402C>T
  • NM_007294.3:c.949C>T
  • NM_007298.3:c.787+162C>T
  • NP_009225.1:p.Gln317Ter
  • LRG_292t1:c.949C>T
  • LRG_292:g.123402C>T
  • LRG_292p1:p.Gln317Ter
  • NC_000017.10:g.41246599G>A
  • NR_027676.1:n.1085C>T
  • U14680.1:n.1068C>T
Nucleotide change:
1068C>T
Protein change:
Q317*
Links:
dbSNP: 80357211
NCBI 1000 Genomes Browser:
rs80357211
Molecular consequence:
  • NM_007298.3:c.787+162C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.1085C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_007294.3:c.949C>T - nonsense - [Sequence Ontology: SO:0001587]
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:
MedGen: C2676676; Orphanet: 145; OMIM: 604370
Age of onset:
All ages
Prevalence:
  • 1-9 / 100 000 Orphanet: 145
  • Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. http://www.ncbi.nlm.nih.gov/books/NBK1247

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000115301Sharing Clinical Reports Project (SCRP)no assertion criteria providedPathogenic
(May 1, 2012)
germlineclinical testing

SCV000143959Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedPathogenic
(May 29, 2002)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided1not providednot provided1not providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115301.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000143959.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 20, 2016