NM_007294.4(BRCA1):c.5193+3A>G AND not specified

Clinical significance:Uncertain significance (Last evaluated: Nov 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000781031.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.5193+3A>G]

NM_007294.4(BRCA1):c.5193+3A>G

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5193+3A>G
HGVS:
  • NC_000017.11:g.43063330T>C
  • NG_005905.2:g.154654A>G
  • NM_007294.3:c.5193+3A>G
  • NM_007294.4:c.5193+3A>GMANE SELECT
  • NM_007297.4:c.5052+3A>G
  • NM_007298.3:c.1881+3A>G
  • NM_007299.4:c.1881+3A>G
  • NM_007300.4:c.5256+3A>G
  • LRG_292t1:c.5193+3A>G
  • LRG_292:g.154654A>G
  • NC_000017.10:g.41215347T>C
Links:
dbSNP: rs1060502326
NCBI 1000 Genomes Browser:
rs1060502326
Molecular consequence:
  • NM_007294.3:c.5193+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.5193+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.5052+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.3:c.1881+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.1881+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.5256+3A>G - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000918796Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Nov 16, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918796.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: BRCA1 c.5193+3A>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 276920 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5193+3A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Nov 10, 2021

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