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NM_007294.3(BRCA1):c.53T>C (p.Met18Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 1, 2015
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:
RCV000131693.3

Allele description

NM_007294.3(BRCA1):c.53T>C (p.Met18Thr)

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.53T>C (p.Met18Thr)
Other names:
p.M18T:ATG>ACG
HGVS:
  • NC_000017.11:g.43124044A>G
  • NG_005905.2:g.93940T>C
  • NM_007294.3:c.53T>C
  • NM_007297.3:c.-35T>C
  • NP_009225.1:p.Met18Thr
  • LRG_292t1:c.53T>C
  • LRG_292:g.93940T>C
  • LRG_292p1:p.Met18Thr
  • NC_000017.10:g.41276061A>G
  • NR_027676.1:n.214T>C
  • P38398:p.Met18Thr
  • U14680.1:n.172T>C
  • p.M18T
Nucleotide change:
172T>C
Protein change:
M18T
Links:
UniProtKB: P38398#VAR_063899; dbSNP: rs80356929
NCBI 1000 Genomes Browser:
rs80356929
Molecular consequence:
  • NM_007297.3:c.-35T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_007294.3:c.53T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.1:n.214T>C - 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
SCV000186729Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))
Likely pathogenic
(Jul 1, 2015)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer.

Greenman J, Mohammed S, Ellis D, Watts S, Scott G, Izatt L, Barnes D, Solomon E, Hodgson S, Mathew C.

Genes Chromosomes Cancer. 1998 Mar;21(3):244-9.

PubMed [citation]
PMID:
9523200

BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history.

Malone KE, Daling JR, Thompson JD, O'Brien CA, Francisco LV, Ostrander EA.

JAMA. 1998 Mar 25;279(12):922-9.

PubMed [citation]
PMID:
9544766
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000186729.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)

Description

Other strong data supporting pathogenic classification

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

Last Updated: Jul 21, 2018