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NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(4);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 6, 2020
Accession:
VCV000054345.5
Variation ID:
54345
Description:
single nucleotide variant
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NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr)

Allele ID
69012
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43093759 (GRCh38) GRCh38 UCSC
17: 41245776 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.43093759A>G
NC_000017.10:g.41245776A>G
NM_007294.4:c.1772T>C MANE Select NP_009225.1:p.Ile591Thr missense
... more HGVS
Protein change
I591T, I544T
Other names
1891T>C
Canonical SPDI
NC_000017.11:43093758:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA001154
dbSNP: rs80356859
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 6, 2018 RCV000220799.2
Likely benign 1 criteria provided, single submitter Nov 6, 2020 RCV001415715.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 1, 2018 RCV000438467.3
Conflicting interpretations of pathogenicity 2 no assertion criteria provided Oct 27, 2011 RCV000083172.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
11983 12150

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 02, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000682983.1
Submitted: (Oct 26, 2017)
Evidence details
Likely benign
(Oct 30, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000520149.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Oct 01, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000916808.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (5)
Comment:
Variant summary: BRCA1 c.1772T>C (p.Ile591Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging … (more)
Likely benign
(Nov 06, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000275844.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Other data supporting benign classification
Likely benign
(Nov 06, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV001617880.1
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Dec 23, 2003)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144177.1
Submitted: (Mar 28, 2014)
Evidence details
Benign
(Oct 27, 2011)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000115246.3
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
Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies. Xiu J Oncotarget 2016 PMID: 26933808
BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer. El Saghir NS The oncologist 2015 PMID: 25777348
Mutation screening of RAD51C in high-risk breast and ovarian cancer families. Lu W Familial cancer 2012 PMID: 22476429
Performance of BRCA1/2 mutation prediction models in Asian Americans. Kurian AW Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2008 PMID: 18779604
Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. Pavlicek A Human molecular genetics 2004 PMID: 15385441

Text-mined citations for rs80356859...

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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 14, 2021