NM_007294.3(BRCA1):c.135-20T>G AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000590037.3

Allele description [Variation Report for NM_007294.3(BRCA1):c.135-20T>G]

NM_007294.3(BRCA1):c.135-20T>G

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.135-20T>G
Other names:
IVS4-20T>G
HGVS:
  • NC_000017.11:g.43106553A>C
  • NG_005905.2:g.111431T>G
  • NM_007294.3:c.135-20T>G
  • NM_007297.4:c.-7-20T>G
  • NM_007298.3:c.135-20T>G
  • NM_007299.4:c.135-20T>G
  • NM_007300.4:c.135-20T>G
  • LRG_292t1:c.135-20T>G
  • LRG_292:g.111431T>G
  • NC_000017.10:g.41258570A>C
  • U14680.1:n.254-20T>G
Links:
Breast Cancer Information Core (BIC) (BRCA1): 254-20&base_change=T to G; dbSNP: rs80358025
NCBI 1000 Genomes Browser:
rs80358025
Molecular consequence:
  • NM_007294.3:c.135-20T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-7-20T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.3:c.135-20T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.135-20T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.135-20T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000698851Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Apr 18, 2016)
germlineclinical testing

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

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698851.1

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

Description

Variant summary: The c.135-20T>G variant affects a non-conserved intronic nucleotide resulting in intronic change at a position not widely known to affect splicing. Mutation Taster predicts benign outcome for this variant. 5/5 in silico tools via Alamut predict the variant not to affect normal splicing. This variant is not found in approximately 98862 control chromosomes from ExAC. It has been reported once in a publication without a strong evidence for causality. One clinical lab/database has classified this variant as a VUS. Because of the absence of sufficient clinical information and the lack of functional studies, the variant has been classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Jun 14, 2021

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