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NM_001999.4(FBN2):c.3486T>G (p.Cys1162Trp)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 30, 2020)
Last evaluated:
Jun 15, 2017
Accession:
VCV000519859.3
Variation ID:
519859
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.3486T>G (p.Cys1162Trp)

Allele ID
509725
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128338109 (GRCh38) GRCh38 UCSC
5: 127673801 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128338109A>C
NC_000005.9:g.127673801A>C
NM_001999.4:c.3486T>G MANE Select NP_001990.2:p.Cys1162Trp missense
NG_008750.1:g.204935T>G
Protein change
C1162W
Other names
-
Canonical SPDI
NC_000005.10:128338108:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA360759557
dbSNP: rs1554123064
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 Jun 15, 2017 RCV000620817.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBN2 - - GRCh38
GRCh37
1735 1754

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 15, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000739034.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.C1162W variant (also known as c.3486T>G), located in coding exon 27 of the FBN2 gene, results from a T to G substitution at nucleotide … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1554123064...

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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 Dec 07, 2020