• replaced

NM_007294.3(BRCA1):c.3625delT (p.Leu1209Terfs) AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Apr 3, 2013)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000019261.2

Allele description

NM_007294.3(BRCA1):c.3625delT (p.Leu1209Terfs)

Gene:
BRCA1:breast cancer 1, early onset [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.3625delT (p.Leu1209Terfs)
HGVS:
  • NC_000017.11:g.43091906delA
  • NG_005905.2:g.126078delT
  • NM_007294.3:c.3625delT
  • NP_009225.1:p.Leu1209Terfs
  • LRG_292t1:c.3625delT
  • LRG_292:g.126078delT
  • LRG_292p1:p.Leu1209Terfs
  • NC_000017.10:g.41243923delA
  • U14680.1:c.3625delT
Links:
OMIM: 113705.0032; dbSNP: 387906564
NCBI 1000 Genomes Browser:
rs387906564
Molecular consequence:
  • NM_007294.3:c.3625delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.1:n.3761delT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_007298.3:c.788-874delT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MedGen: C2676676; Orphanet: 145; OMIM: 604370
Age of onset:
Variable
Prevalence:
  • 1-5 / 10 000 Orphanet: 145
  • Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. http://www.ncbi.nlm.nih.gov/books/NBK1247/

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039549OMIMPathogenic
(Apr 3, 2013)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland.

Sarantaus L, Huusko P, Eerola H, Launonen V, Vehmanen P, Rapakko K, Gillanders E, Syrjäkoski K, Kainu T, Vahteristo P, Krahe R, Pääkkönen K, Hartikainen J, Blomqvist C, Löppönen T, Holli K, Ryynänen M, Bützow R, Borg A, Wasteson Arver B, Holmberg E, Mannermaa A, et al.

Eur J Hum Genet. 2000 Oct;8(10):757-63.

PubMed [citation]
PMID:
11039575

Details of each submission

From OMIM, SCV000039549.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Sarantaus et al. (2000) performed haplotype analysis of 26 Finnish patients with breast-ovarian cancer (604370) carrying a 3744delT mutation in exon 11 of the BRCA1 gene. They estimated that the mutation could be traced back 23 to 36 generations (500-700 years). The mutation was observed in Swedish families also. Most of the Finnish families had lived in Central Ostrobothnia for at least 300 years, whereas the Swedish families came from the opposite side of the Gulf of Bothnia. Thus, the mutation could have been brought across the sea from Sweden to Finland with Swedish settlers.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 13, 2015