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NM_007294.4(BRCA1):c.4750G>T (p.Ala1584Ser)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 10, 2020
Accession:
VCV000055279.6
Variation ID:
55279
Description:
single nucleotide variant
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NM_007294.4(BRCA1):c.4750G>T (p.Ala1584Ser)

Allele ID
69946
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43071164 (GRCh38) GRCh38 UCSC
17: 41223181 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.43071164C>A
NC_000017.10:g.41223181C>A
NM_007294.4:c.4750G>T MANE Select NP_009225.1:p.Ala1584Ser missense
... more HGVS
Protein change
A1584S, A480S, A1537S, A1605S
Other names
p.A1584S:GCC>TCC
4869G>T
Canonical SPDI
NC_000017.11:43071163:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA003005
dbSNP: rs80357070
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 Feb 25, 2019 RCV000165039.4
Likely benign 1 criteria provided, single submitter Aug 10, 2020 RCV000048651.10
Likely benign 1 criteria provided, single submitter Jan 15, 2018 RCV000212186.2
Conflicting interpretations of pathogenicity 2 no assertion criteria provided May 1, 2012 RCV000083211.4
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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
11971 12138

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 11, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000683210.1
Submitted: (Oct 26, 2017)
Evidence details
Likely benign
(Feb 25, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215738.4
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
In silico models in agreement (benign);Other data supporting benign classification
Likely benign
(Jan 15, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000209976.9
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)
Likely benign
(Aug 10, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000076664.9
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Feb 20, 2004)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145173.1
Submitted: (Mar 28, 2014)
Evidence details
Likely benign
(May 01, 2012)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000115285.3
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
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. Borg A Human mutation 2010 PMID: 20104584
The breast cancer information core: database design, structure, and scope. Szabo C Human mutation 2000 PMID: 10923033

Text-mined citations for rs80357070...

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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 06, 2021