NM_007294.4(BRCA1):c.134+5G>A AND Breast-ovarian cancer, familial 1

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Jul 17, 2009)

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:
RCV000077065.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.134+5G>A]

NM_007294.4(BRCA1):c.134+5G>A

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.134+5G>A
HGVS:
  • NC_000017.11:g.43115721C>T
  • NG_005905.2:g.102263G>A
  • NM_007294.4:c.134+5G>AMANE SELECT
  • NM_007297.4:c.-8+8296G>A
  • NM_007298.3:c.134+5G>A
  • NM_007299.4:c.134+5G>A
  • NM_007300.4:c.134+5G>A
  • LRG_292t1:c.134+5G>A
  • LRG_292:g.102263G>A
  • NC_000017.10:g.41267738C>T
  • NM_007294.3:c.134+5G>A
  • U14680.1:n.253+5G>A
Nucleotide change:
IVS3+5G>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 253+5&base_change=G to A; dbSNP: rs80358038
NCBI 1000 Genomes Browser:
rs80358038
Molecular consequence:
  • NM_007294.4:c.134+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-8+8296G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.3:c.134+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.134+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.134+5G>A - intron variant - [Sequence Ontology: SO:0001627]
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
SCV000108862Sharing Clinical Reports Project (SCRP)no assertion criteria providedLikely pathogenic
(Jul 17, 2009)
germlineclinical testing

SCV000144420Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(Nov 25, 2004)
germlineclinical testing

SCV001242403Brotman 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 providedgermlinenot provided1not providednot provided1not providedclinical testing
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
Asiangermlineyes1not providednot providednot providednot providedclinical testing

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), SCV000108862.3

#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), SCV000144420.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Brotman Baty Institute,University of Washington, SCV001242403.1

#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 10, 2021

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