NM_007294.3(BRCA1):c.81-1G>C AND Familial cancer of breast

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000049148.2

Allele description [Variation Report for NM_007294.3(BRCA1):c.81-1G>C]

NM_007294.3(BRCA1):c.81-1G>C

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.81-1G>C
HGVS:
  • NC_000017.11:g.43115780C>G
  • NG_005905.2:g.102204G>C
  • NM_007294.3:c.81-1G>C
  • NM_007297.3:c.-8+8237G>C
  • LRG_292t1:c.81-1G>C
  • LRG_292:g.102204G>C
  • NC_000017.10:g.41267797C>G
Links:
dbSNP: 80358018
NCBI 1000 Genomes Browser:
rs80358018
Molecular consequence:
  • NM_007297.3:c.-8+8237G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.81-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
CHEK2-Related Breast Cancer
Identifiers:
MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000077161Invitae no assertion providednot providedgermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.

Kroiss R, Winkler V, Bikas D, Fleischmann E, Mainau C, Frommlet F, Muhr D, Fuerhauser C, Tea M, Bittner B, Kubista E, Oefner PJ, Bauer P, Wagner TM; Austrian Hereditary Breast and Ovarian Cancer Group..

Hum Mutat. 2005 Dec;26(6):583-9.

PubMed [citation]
PMID:
16287141

Details of each submission

From Invitae , SCV000077161.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2017