U.S. flag

An official website of the United States government

  • delete

NM_007294.3(BRCA1):c.2973_2979delAACTAAA (p.Lys991Asnfs) 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:
RCV000048027.2

Allele description

NM_007294.3(BRCA1):c.2973_2979delAACTAAA (p.Lys991Asnfs)

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.2973_2979delAACTAAA (p.Lys991Asnfs)
Other names:
3092_3098del7
HGVS:
  • NC_000017.11:g.43092552_43092558delTTTAGTT
  • NG_005905.2:g.125426_125432delAACTAAA
  • NM_007294.3:c.2973_2979delAACTAAA
  • NM_007298.3:c.788-1526_788-1520delAACTAAA
  • NP_009225.1:p.Lys991Asnfs
  • LRG_292t1:c.2973_2979delAACTAAA
  • LRG_292:g.125426_125432delAACTAAA
  • LRG_292p1:p.Lys991Asnfs
  • NC_000017.10:g.41244569_41244575delTTTAGTT
  • NC_000017.10:g.41244570_41244576delTTAGTTT
  • NM_007294.3:c.2972_2978delAAACTAA
  • NM_007294.3:c.2973_2979del
  • NR_027676.1:n.3109_3115delAACTAAA
  • p.Lys991fs
Links:
dbSNP: rs397509030
NCBI 1000 Genomes Browser:
rs397509030
Molecular consequence:
  • NM_007294.3:c.2973_2979delAACTAAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.788-1526_788-1520delAACTAAA - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.3109_3115delAACTAAA - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000076040Invitae,
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

Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA, Narod SA.

J Natl Cancer Inst. 2006 Dec 6;98(23):1694-706.

PubMed [citation]
PMID:
17148771

Details of each submission

From Invitae,, SCV000076040.2

#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