NM_007294.3(BRCA1):c.929delA (p.Gln310Argfs) 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:
RCV000049194.2

Allele description [Variation Report for NM_007294.3(BRCA1):c.929delA (p.Gln310Argfs)]

NM_007294.3(BRCA1):c.929delA (p.Gln310Argfs)

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.929delA (p.Gln310Argfs)
HGVS:
  • NC_000017.11:g.43094602delT
  • NG_005905.2:g.123382delA
  • NM_007294.3:c.929delA
  • NM_007298.3:c.787+142delA
  • NP_009225.1:p.Gln310Argfs
  • LRG_292t1:c.929delA
  • LRG_292:g.123382delA
  • LRG_292p1:p.Gln310Argfs
  • NC_000017.10:g.41246619delT
  • NM_007294.3:c.929del
  • NR_027676.1:n.1065delA
  • U14680.1:n.1048delA
  • p.Q310RFS*4
Nucleotide change:
1048delA
Links:
Breast Cancer Information Core (BIC) (BRCA1): 1048&base_change=del A; dbSNP: 80357844
NCBI 1000 Genomes Browser:
rs80357844
Molecular consequence:
  • NM_007294.3:c.929delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.787+142delA - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.1065delA - 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
SCV000077207Invitaeno 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

Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families.

Friedman LS, Szabo CI, Ostermeyer EA, Dowd P, Butler L, Park T, Lee MK, Goode EL, Rowell SE, King MC.

Am J Hum Genet. 1995 Dec;57(6):1284-97.

PubMed [citation]
PMID:
8533757
PMCID:
PMC1801403

Details of each submission

From Invitae, SCV000077207.2

#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 6, 2016