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NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 25, 2021)
Last evaluated:
Sep 16, 2020
Accession:
VCV000263898.6
Variation ID:
263898
Description:
single nucleotide variant
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NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)

Allele ID
258846
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48444546 (GRCh38) GRCh38 UCSC
15: 48736743 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.48444546C>T
NC_000015.9:g.48736743C>T
NG_008805.2:g.206243G>A
... more HGVS
Protein change
C2011Y
Other names
-
Canonical SPDI
NC_000015.10:48444545:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10587803
dbSNP: rs886038967
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 19, 2015 RCV000242615.1
Likely pathogenic 1 criteria provided, single submitter Mar 28, 2019 RCV000413845.2
Uncertain significance 1 criteria provided, single submitter Sep 16, 2020 RCV001260318.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBN1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4867 4964

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 19, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000319401.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.C2011Y variant (also known as c.6032G>A), located in coding exon 48 of the FBN1 gene, results from a G to A substitution at nucleotide … (more)
Likely pathogenic
(Mar 28, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000490525.2
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Affects a cysteine residue within a calcium-binding EGF-like domain of the FBN1 gene, which may affect disulfide bonding and is predicted to alter the structure … (more)
Uncertain significance
(Sep 16, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001437243.1
Submitted: (Oct 06, 2020)
Evidence details
Comment:
Variant summary: FBN1 c.6032G>A (p.Cys2011Tyr) results in a non-conservative amino acid change located in the EGF-like calcium-binding domain (IPR001881) of the encoded protein sequence. Five … (more)

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
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities. Robinson DO Clinical genetics 2012 PMID: 21895641

Text-mined citations for rs886038967...

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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 Oct 24, 2021