NM_007294.4(BRCA1):c.372C>A (p.Ile124=) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Dec 21, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000567378.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.372C>A (p.Ile124=)]

NM_007294.4(BRCA1):c.372C>A (p.Ile124=)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.372C>A (p.Ile124=)
Other names:
491C>A
HGVS:
  • NC_000017.11:g.43104191G>T
  • NG_005905.2:g.113793C>A
  • NM_007294.3:c.372C>A
  • NM_007294.4:c.372C>AMANE SELECT
  • NM_007297.4:c.231C>A
  • NM_007298.3:c.372C>A
  • NM_007299.4:c.372C>A
  • NM_007300.4:c.372C>A
  • NP_009225.1:p.Ile124=
  • NP_009225.1:p.Ile124=
  • NP_009228.2:p.Ile77=
  • NP_009229.2:p.Ile124=
  • NP_009230.2:p.Ile124=
  • NP_009231.2:p.Ile124=
  • LRG_292t1:c.372C>A
  • LRG_292:g.113793C>A
  • LRG_292p1:p.Ile124=
  • NC_000017.10:g.41256208G>T
  • NR_027676.2:n.552C>A
  • U14680.1:n.491C>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 491&base_change=C to A; dbSNP: rs273900715
NCBI 1000 Genomes Browser:
rs273900715
Molecular consequence:
  • NR_027676.2:n.552C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_007294.3:c.372C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007294.4:c.372C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007297.4:c.231C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007298.3:c.372C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007299.4:c.372C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007300.4:c.372C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000665894Ambry Geneticscriteria provided, single submitter
Likely benign
(Dec 21, 2016)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, Yoon SY, Taib NA, Thong MK, Yip CH, Teo SH.

Breast Cancer Res. 2008;10(4):R59. doi: 10.1186/bcr2118. Epub 2008 Jul 16.

PubMed [citation]
PMID:
18627636
PMCID:
PMC2575532

Details of each submission

From Ambry Genetics, SCV000665894.3

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

Description

Synonymous alterations with insufficient evidence to classify as benign

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

Last Updated: Jun 14, 2021

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