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NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 30, 2020
Accession:
VCV000096840.8
Variation ID:
96840
Description:
single nucleotide variant
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NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)

Allele ID
102743
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32340981 (GRCh38) GRCh38 UCSC
13: 32915118 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.11:g.32340981T>C
NG_012772.3:g.30502T>C
NM_000059.4:c.6626T>C MANE Select NP_000050.3:p.Ile2209Thr missense
... more HGVS
Protein change
I2209T
Other names
6854T>C
Canonical SPDI
NC_000013.11:32340980:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA024222
dbSNP: rs431825344
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Oct 3, 2016 RCV000082961.3
Uncertain significance 1 criteria provided, single submitter Apr 30, 2020 RCV000119208.5
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000763894.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 26, 2019 RCV000217422.3
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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
13782 13897

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 30, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000153950.5
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces isoleucine with threonine at codon 2209 of the BRCA2 protein (p.Ile2209Thr). The isoleucine residue is weakly conserved and there is a … (more)
Uncertain significance
(Oct 03, 2016)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: unknown
Counsyl
Accession: SCV000489418.1
Submitted: (Nov 23, 2016)
Evidence details
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Familial cancer of breast
Medulloblastoma
Malignant tumor of prostate
Wilms tumor 1
Fanconi anemia, complementation group D1
Breast-ovarian cancer, familial 2
Glioma susceptibility 3
Pancreatic cancer 2
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894829.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Nov 26, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001355520.1
Submitted: (May 19, 2020)
Comment:
This missense variant replaces isoleucine with threonine at codon 2209 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
Evidence details
Likely benign
(Apr 17, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000277369.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Insufficient or conflicting evidence;Other strong data supporting benign classification
Uncertain significance
(May 01, 2012)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000115035.3
Submitted: (Dec 30, 2013)
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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs431825344...

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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 Nov 20, 2021