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NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 22, 2017)
Last evaluated:
Aug 1, 2017
Accession:
VCV000487464.1
Variation ID:
487464
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys)

Allele ID
480519
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128338081 (GRCh38) GRCh38 UCSC
5: 127673773 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128338081C>A
NC_000005.9:g.127673773C>A
NG_008750.1:g.204963G>T
NM_001999.4:c.3514G>T MANE Select NP_001990.2:p.Gly1172Cys missense
Protein change
G1172C
Other names
-
Canonical SPDI
NC_000005.10:128338080:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA360759437
dbSNP: rs138303817
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 Aug 1, 2017 RCV000576844.1
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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
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV000678220.1
Submitted: (Sep 22, 2017)
Evidence details
Comment:
FBN2 NM_001999.3 exon27 p.Gly1172Cys (c.3514G>T): This variant has not been reported in the literature, but has been identified de novo by our laboratory in 1 … (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 rs138303817...

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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 08, 2021