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NM_007294.3(BRCA1):c.5075-1G>A AND Breast-ovarian cancer, familial 1

Clinical significance:Likely pathogenic (Last evaluated: May 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000112485.3

Allele description

NM_007294.3(BRCA1):c.5075-1G>A

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.5075-1G>A
Other names:
IVS17-1G>A
HGVS:
  • NC_000017.11:g.43063952C>T
  • NG_005905.2:g.154032G>A
  • NM_007294.3:c.5075-1G>A
  • NM_007297.4:c.4934-1G>A
  • NM_007298.3:c.1763-1G>A
  • NM_007299.4:c.1763-1G>A
  • NM_007300.4:c.5138-1G>A
  • LRG_292t1:c.5075-1G>A
  • LRG_292:g.154032G>A
  • NC_000017.10:g.41215969C>T
  • U14680.1:n.5194-1G>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5194-1&base_change=G to A; dbSNP: rs1800747
NCBI 1000 Genomes Browser:
rs1800747
Molecular consequence:
  • NM_007294.3:c.5075-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007297.4:c.4934-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007298.3:c.1763-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007299.4:c.1763-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007300.4:c.5138-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

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
SCV000145296Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedPathogenic
(Jun 22, 1999)
germlineclinical testing

SCV000677656Counsylcriteria provided, single submitter
Likely pathogenic
(May 4, 2017)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Ashkenazigermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families.

Gonzalez-Hormazabal P, Gutierrez-Enriquez S, Gaete D, Reyes JM, Peralta O, Waugh E, Gomez F, Margarit S, Bravo T, Blanco R, Diez O, Jara L.

Breast Cancer Res Treat. 2011 Apr;126(3):705-16. doi: 10.1007/s10549-010-1170-y. Epub 2010 Sep 22.

PubMed [citation]
PMID:
20859677

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, et al.

N Engl J Med. 2016 Aug 4;375(5):443-53. doi: 10.1056/NEJMoa1603144. Epub 2016 Jul 6.

PubMed [citation]
PMID:
27433846
PMCID:
PMC4986616
See all PubMed Citations (3)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145296.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Ashkenazi1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000677656.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2020