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NM_032043.2(BRIP1):c.206-1G>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jun 11, 2021)
Last evaluated:
Dec 22, 2020
Accession:
VCV000483196.8
Variation ID:
483196
Description:
single nucleotide variant
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NM_032043.2(BRIP1):c.206-1G>T

Allele ID
479949
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q23.2
Genomic location
17: 61857232 (GRCh38) GRCh38 UCSC
17: 59934593 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.59934593C>A
NC_000017.11:g.61857232C>A
LRG_300t1:c.206-1G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:61857231:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA400485634
dbSNP: rs1555617934
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 24, 2020 RCV000693188.4
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 22, 2020 RCV000563712.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRIP1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
3395 3432

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 22, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000668959.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.206-1G>T intronic variant results from a G to T substitution one nucleotide upstream from coding exon 3 of the BRIP1 gene. This nucleotide position … (more)
Likely pathogenic
(Sep 24, 2020)
criteria provided, single submitter
Method: clinical testing
Familial cancer of breast
Fanconi anemia, complementation group J
Allele origin: germline
Invitae
Accession: SCV000821047.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change affects an acceptor splice site in intron 3 of the BRIP1 gene. It is expected to disrupt RNA splicing and likely results … (more)
Likely pathogenic
(Dec 22, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001344519.2
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This variant causes a G to T nucleotide substitution at the -1 position of intron 3 of the BRIP1 gene. Splice site prediction tools predict … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Mutations in BRIP1 confer high risk of ovarian cancer. Rafnar T Nature genetics 2011 PMID: 21964575
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Seal S Nature genetics 2006 PMID: 17033622
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Levitus M Nature genetics 2005 PMID: 16116423

Text-mined citations for rs1555617934...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 19, 2021