NM_007294.4(BRCA1):c.4485-2A>G AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000077574.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.4485-2A>G]

NM_007294.4(BRCA1):c.4485-2A>G

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.4485-2A>G
HGVS:
  • NC_000017.11:g.43074523T>C
  • NG_005905.2:g.143461A>G
  • NM_007294.3:c.4485-2A>G
  • NM_007294.4:c.4485-2A>GMANE SELECT
  • NM_007297.4:c.4344-2A>G
  • NM_007298.3:c.1173-2A>G
  • NM_007299.4:c.1173-2A>G
  • NM_007300.4:c.4548-2A>G
  • LRG_292t1:c.4485-2A>G
  • LRG_292:g.143461A>G
  • NC_000017.10:g.41226540T>C
  • NM_007294.4:c.4485-2A>G
  • U14680.1:n.4604-2A>G
Nucleotide change:
IVS14-2A>G
Links:
Breast Cancer Information Core (BIC) (BRCA1): 4604-2&base_change=A to G; dbSNP: rs80358054
NCBI 1000 Genomes Browser:
rs80358054
Molecular consequence:
  • NM_007294.3:c.4485-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007294.4:c.4485-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007297.4:c.4344-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007298.3:c.1173-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007299.4:c.1173-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007300.4:c.4548-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
6

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
SCV000109377Sharing Clinical Reports Project (SCRP)no assertion criteria providedUncertain significance
(Jul 2, 2012)
germlineclinical testing

SCV000145103Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedPathogenic
(May 29, 2002)
germlineclinical testing

SCV000325987Consortium 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,

SCV000577932Genologica Medica

See additional submitters

criteria provided, single submitter
Pathogenic
(Jan 1, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedgermlineyes5not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided5not providednot providednot providedclinical testing
Causasiansgermlineyesnot provided1not providednot providedyesclinical testing
Western Europeangermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109377.2

#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), SCV000145103.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided
2Western European2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided5not providednot providednot provided
2germlineyesnot providednot providednot provided2not providednot providednot provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325987.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided5not provided

From Genologica Medica, SCV000577932.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasiansnot providednot providedyesclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodnot providednot providednot provided1not provided

Last Updated: Sep 23, 2021

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