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NM_007294.4(BRCA1):c.1581G>C (p.Lys527Asn)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 27, 2020
Accession:
VCV000054300.5
Variation ID:
54300
Description:
single nucleotide variant
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NM_007294.4(BRCA1):c.1581G>C (p.Lys527Asn)

Allele ID
68967
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43093950 (GRCh38) GRCh38 UCSC
17: 41245967 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41245967C>G
NC_000017.11:g.43093950C>G
NM_007294.4:c.1581G>C MANE Select NP_009225.1:p.Lys527Asn missense
... more HGVS
Protein change
K527N, K480N
Other names
-
Canonical SPDI
NC_000017.11:43093949:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA001056
dbSNP: rs80357493
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 Feb 27, 2020 RCV001313648.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 21, 2019 RCV000132496.4
Uncertain significance 1 no assertion criteria provided - RCV000111650.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
12270 12437

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 25, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000911189.1
Submitted: (Nov 06, 2018)
Evidence details
Uncertain significance
(Aug 21, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000187590.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.K527N variant (also known as c.1581G>C), located in coding exon 9 of the BRCA1 gene, results from a G to C substitution at nucleotide … (more)
Uncertain significance
(Feb 27, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV001504152.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with asparagine at codon 527 of the BRCA1 protein (p.Lys527Asn). The lysine residue is moderately conserved and there is a … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144137.1
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
Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans. Burk-Herrick A Mammalian genome : official journal of the International Mammalian Genome Society 2006 PMID: 16518693

Text-mined citations for rs80357493...

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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 Apr 18, 2021