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NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=)

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Interpretation:
Likely benign​

Review status:
reviewed by expert panel
Submissions:
8 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 29, 2017
Accession:
VCV000219948.10
Variation ID:
219948
Description:
single nucleotide variant
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NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=)

Allele ID
222658
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43091484 (GRCh38) GRCh38 UCSC
17: 41243501 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.43091484C>T
NC_000017.10:g.41243501C>T
NM_007294.4:c.4047G>A MANE Select NP_009225.1:p.Thr1349= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:43091483:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA059018
dbSNP: rs758515222
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 reviewed by expert panel Jun 29, 2017 RCV000495765.2
Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 20, 2019 RCV000215970.3
Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 21, 2019 RCV000417405.3
Likely benign 1 criteria provided, single submitter Aug 20, 2020 RCV001088269.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 6, 2019 RCV000732061.4
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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
(Jun 29, 2017)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial 1
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000578397.2
Submitted: (Jun 29, 2017)
Evidence details
Comment:
Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Likely benign
(Dec 22, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000683146.1
Submitted: (Oct 26, 2017)
Evidence details
Likely benign
(Oct 10, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000515942.4
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
(Mar 12, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000859947.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Aug 21, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918735.2
Submitted: (Sep 24, 2019)
Evidence details
Likely benign
(Dec 20, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000277005.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Oct 06, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001470174.1
Submitted: (Dec 31, 2020)
Evidence details
Likely benign
(Aug 20, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000260130.6
Submitted: (Jan 07, 2021)
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA1 - - - -

Text-mined citations for rs758515222...

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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