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NM_007294.3(BRCA1):c.130delT (p.Cys44Alafs) AND Familial cancer of breast

Germline classification:
not provided (1 submission)
Last evaluated:
Feb 1, 2013
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000047412.2

Allele description

NM_007294.3(BRCA1):c.130delT (p.Cys44Alafs)

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.130delT (p.Cys44Alafs)
Other names:
249delT
HGVS:
  • NC_000017.11:g.43115730delA
  • NG_005905.2:g.102254delT
  • NM_007294.3:c.130delT
  • NM_007297.3:c.-8+8287delT
  • NP_009225.1:p.Cys44Alafs
  • LRG_292t1:c.130delT
  • LRG_292:g.102254delT
  • LRG_292p1:p.Cys44Alafs
  • NC_000017.10:g.41267747delA
  • NM_007294.3:c.130del
  • NR_027676.1:n.291delT
  • U14680.1:n.249delT
Nucleotide change:
249DELT
Links:
Breast Cancer Information Core (BIC) (BRCA1): 249&base_change=del T; dbSNP: rs80357951
NCBI 1000 Genomes Browser:
rs80357951
Molecular consequence:
  • NM_007294.3:c.130delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.3:c.-8+8287delT - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.291delT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000075425Invitae,
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

The breast cancer information core: database design, structure, and scope.

Szabo C, Masiello A, Ryan JF, Brody LC.

Hum Mutat. 2000;16(2):123-31.

PubMed [citation]
PMID:
10923033

Details of each submission

From Invitae,, SCV000075425.2

#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: Dec 7, 2017