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NM_000059.3(BRCA2):c.5651T>C (p.Ile1884Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 9, 2021)
Last evaluated:
Mar 4, 2020
Accession:
VCV000051899.6
Variation ID:
51899
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.5651T>C (p.Ile1884Thr)

Allele ID
66567
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32340006 (GRCh38) GRCh38 UCSC
13: 32914143 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_293:g.29527T>C
NC_000013.10:g.32914143T>C
NC_000013.11:g.32340006T>C
... more HGVS
Protein change
I1884T
Other names
-
Canonical SPDI
NC_000013.11:32340005:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA022855
dbSNP: rs80358788
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 4, 2020 RCV001346339.1
Likely benign 1 criteria provided, single submitter Jan 20, 2020 RCV001646422.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 21, 2019 RCV000216526.2
Uncertain significance 1 no assertion criteria provided Feb 20, 2004 RCV000113453.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
14102 14215

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 21, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000275903.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other strong data supporting benign classification
Likely benign
(Jan 20, 2020)
criteria provided, single submitter
Method: curation
Breast-ovarian cancer, familial 1
Breast-ovarian cancer, familial 2
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Research and Development, ARUP Laboratories
Accession: SCV001854850.1
Submitted: (Sep 09, 2021)
Evidence details
Publications
PubMed (1)
Other databases
https://arup.utah.edu/database/B…
Uncertain significance
(May 23, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001348078.1
Submitted: (May 19, 2020)
Evidence details
Uncertain significance
(Mar 04, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV001540533.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces isoleucine with threonine at codon 1884 of the BRCA2 protein (p.Ile1884Thr). The isoleucine residue is weakly conserved and there is a … (more)
Uncertain significance
(Feb 20, 2004)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000146656.1
Submitted: (Mar 28, 2014)
Evidence details

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
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Parsons MT Human mutation 2019 PMID: 31131967
https://arup.utah.edu/database/BRCA/Variants/BRCA2.php - - - -

Text-mined citations for rs80358788...

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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 Sep 18, 2021