NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Mar 9, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000131810.5

Allele description

NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs)

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.3756_3759delGTCT (p.Ser1253Argfs)
Other names:
3874del4; 3875_3878delGTCT
HGVS:
  • NC_000017.11:g.43091772_43091775delAGAC
  • NG_005905.2:g.126209_126212delGTCT
  • NM_007294.3:c.3756_3759delGTCT
  • NM_007298.3:c.788-743_788-740delGTCT
  • NP_009225.1:p.Ser1253Argfs
  • LRG_292t1:c.3756_3759delGTCT
  • LRG_292:g.126209_126212delGTCT
  • LRG_292p1:p.Ser1253Argfs
  • NC_000017.10:g.41243789_41243792delAGAC
  • NM_007294.3:c.3756_3759del
  • NR_027676.1:n.3892_3895delGTCT
  • U14680.1:c.3756_3759delGTCT
  • U14680.1:n.3875_3878delGTCT
  • p.S1253Rfs*10
  • p.S1253RfsX10
  • p.Ser1253Argfs*10
Nucleotide change:
3875del4
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3874&base_change=del TGTC; Breast Cancer Information Core (BIC) (BRCA1): 3875&base_change=del GTCT; OMIM: 113705.0014; dbSNP: rs80357868
NCBI 1000 Genomes Browser:
rs80357868
Allele Frequency:
0.00003(-)
Molecular consequence:
  • NM_007294.3:c.3756_3759delGTCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.788-743_788-740delGTCT - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.3892_3895delGTCT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000186865Ambry Geneticscriteria provided, single submitter
Pathogenic
(Mar 9, 2017)
germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link,

SCV000292139Colorcriteria provided, single submitter
Pathogenic
(Jun 14, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.

Castilla LH, Couch FJ, Erdos MR, Hoskins KF, Calzone K, Garber JE, Boyd J, Lubin MB, Deshano ML, Brody LC, et al.

Nat Genet. 1994 Dec;8(4):387-91.

PubMed [citation]
PMID:
7894491

[Analysis of the mutations of BRCA1 in 9 familiar breast cancer patients].

Deng S, Wang Y, Ke Y, Xu G.

Beijing Da Xue Xue Bao Yi Xue Ban. 2003 Aug;35(4):373-6. Chinese.

PubMed [citation]
PMID:
12947551
See all PubMed Citations (11)

Details of each submission

From Ambry Genetics, SCV000186865.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (10)

Description

Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color, SCV000292139.1

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

Last Updated: Oct 13, 2018

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