NM_007294.3(BRCA1):c.5467+8G>A AND Breast-ovarian cancer, familial 1

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Uncertain significance(1) (Last evaluated: Apr 10, 2013)

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

no assertion criteria provided

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000077168.6

Allele description [Variation Report for NM_007294.3(BRCA1):c.5467+8G>A]

NM_007294.3(BRCA1):c.5467+8G>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.5467+8G>A
HGVS:
  • NC_000017.11:g.43047635C>T
  • NG_005905.2:g.170349G>A
  • NM_007294.3:c.5467+8G>A
  • NM_007297.4:c.5326+8G>A
  • NM_007298.3:c.2155+8G>A
  • NM_007299.4:c.2081+8G>A
  • NM_007300.4:c.5530+8G>A
  • LRG_292t1:c.5467+8G>A
  • LRG_292:g.170349G>A
  • NC_000017.10:g.41199652C>T
  • U14680.1:n.5586+8G>A
Nucleotide change:
IVS23+8G>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5586+8&base_change=G to A; dbSNP: rs80358062
NCBI 1000 Genomes Browser:
rs80358062
Molecular consequence:
  • NM_007294.3:c.5467+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.5326+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.3:c.2155+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.2081+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.5530+8G>A - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

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
SCV000108965Sharing Clinical Reports Project (SCRP)no assertion criteria providedBenign
(Apr 10, 2013)

History

germlineclinical testing

SCV000145524Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(May 29, 2002)
germlineclinical testing

SCV001243381Brotman 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

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 Sharing Clinical Reports Project (SCRP), SCV000108965.4

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

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145524.1

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

From Brotman Baty Institute,University of Washington, SCV001243381.1

#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: Jun 14, 2021

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