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NM_007294.3(BRCA1):c.3700_3704delGTAAA (p.Val1234Glnfs) AND Familial cancer of breast

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Help
Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000238864.1

Allele description

NM_007294.3(BRCA1):c.3700_3704delGTAAA (p.Val1234Glnfs)

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.3700_3704delGTAAA (p.Val1234Glnfs)
Other names:
3819_3823delGTAAA
HGVS:
  • NC_000017.11:g.43091827_43091831delTTTAC
  • NG_005905.2:g.126153_126157delGTAAA
  • NM_007294.3:c.3700_3704delGTAAA
  • NM_007298.3:c.788-799_788-795delGTAAA
  • NP_009225.1:p.Val1234Glnfs
  • LRG_292t1:c.3700_3704delGTAAA
  • LRG_292:g.126153_126157delGTAAA
  • LRG_292p1:p.Val1234Glnfs
  • NC_000017.10:g.41243844_41243848delTTTAC
  • NM_007294.3:c.3700_3704del
  • NM_007294.3:c.3700_3704del5
  • NR_027676.1:n.3836_3840delGTAAA
  • U14680.1:n.3819_3823delGTAAA
  • p.V1234Qfs*8
  • p.Val1234Glnfs*8
  • p.Val1234GlnfsX8
Nucleotide change:
3819del5
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3819&base_change=del GTAAA; dbSNP: rs80357609
NCBI 1000 Genomes Browser:
rs80357609
Molecular consequence:
  • NM_007294.3:c.3700_3704delGTAAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.788-799_788-795delGTAAA - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.3836_3840delGTAAA - 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
SCV000296798GeneKor MSA,criteria provided, single submitter
Pathogenic
(Jul 1, 2016) 		germlineclinical testing

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

Summary from all submissions

Help
EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 GeneKor MSA,, SCV000296798.1

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

Last Updated: Sep 12, 2018