NM_007294.4(BRCA1):c.301+1G>C AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Oct 2, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000258159.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.301+1G>C]

NM_007294.4(BRCA1):c.301+1G>C

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.301+1G>C
HGVS:
  • NC_000017.11:g.43104867C>G
  • NG_005905.2:g.113117G>C
  • NM_007294.3:c.301+1G>C
  • NM_007294.4:c.301+1G>CMANE SELECT
  • NM_007297.4:c.160+1G>C
  • NM_007298.3:c.301+1G>C
  • NM_007299.4:c.301+1G>C
  • NM_007300.4:c.301+1G>C
  • LRG_292t1:c.301+1G>C
  • LRG_292:g.113117G>C
  • NC_000017.10:g.41256884C>G
Links:
dbSNP: rs587782173
NCBI 1000 Genomes Browser:
rs587782173
Molecular consequence:
  • NM_007294.3:c.301+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.301+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.160+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.3:c.301+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.301+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.301+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
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:
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
SCV000325525Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridgecriteria provided, single submitter
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf,

Citation Link,

SCV001243802Brotman 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 providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
not providedgermlineunknownnot provided1not 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 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325525.3

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

From Brotman Baty Institute,University of Washington, SCV001243802.1

#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: Nov 10, 2021

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