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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000296798GeneKor MSA,
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jul 1, 2016)
germlineclinical testing

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

Summary from all submissions

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