NM_007294.4(BRCA1):c.4097-11T>G AND not specified

Clinical significance:Uncertain significance (Last evaluated: Oct 7, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001193195.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.4097-11T>G]

NM_007294.4(BRCA1):c.4097-11T>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.4097-11T>G
HGVS:
  • NC_000017.11:g.43091043A>C
  • NG_005905.2:g.126941T>G
  • NM_007294.4:c.4097-11T>GMANE SELECT
  • NM_007297.4:c.3956-11T>G
  • NM_007298.3:c.788-11T>G
  • NM_007299.4:c.788-11T>G
  • NM_007300.4:c.4097-11T>G
  • LRG_292t1:c.4097-11T>G
  • LRG_292:g.126941T>G
  • NC_000017.10:g.41243060A>C
  • NM_007294.3:c.4097-11T>G
Links:
dbSNP: rs80358072
NCBI 1000 Genomes Browser:
rs80358072
Molecular consequence:
  • NM_007294.4:c.4097-11T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.3956-11T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.3:c.788-11T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-11T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.4097-11T>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001361891Integrated Genetics/Laboratory Corporation of Americacriteria provided, single submitter
Uncertain significance
(Oct 7, 2019)
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 Integrated Genetics/Laboratory Corporation of America, SCV001361891.1

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

Description

Variant summary: BRCA1 c.4097-11T>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. 4/4 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 241972 control chromosomes. 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.4097-11T>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. A different nucleotide change at the same location (BRCA1:c.4097-11T>C, ClinVar ID 125673) has been reviewed as benign by an expert panel (ENIGMA) with multiple clinical lab submitters reporting a likely benign classification. Based on the evidence outlined above, the c.4097-11T>G variant in BRCA1 was classified as uncertain significance.

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

Last Updated: Apr 1, 2021

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