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NM_000557.4(GDF5):c.1199G>A (p.Cys400Tyr)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Sep 1, 1997
Accession:
VCV000008379.1
Variation ID:
8379
Description:
single nucleotide variant
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NM_000557.4(GDF5):c.1199G>A (p.Cys400Tyr)

Allele ID
23418
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q11.22
Genomic location
20: 35434216 (GRCh38) GRCh38 UCSC
20: 34022014 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.34022014C>T
NC_000020.11:g.35434216C>T
NM_000557.4:c.1199G>A NP_000548.2:p.Cys400Tyr missense
NG_008076.3:g.25531G>A
Protein change
C400Y
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
OMIM: 601146.0003
dbSNP: rs74315387
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 1, 1997 RCV000008885.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GDF5 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
16 68
GDF5OS - - - GRCh38
GRCh37
- 46

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 01, 1997)
no assertion criteria provided
Method: literature only
CHONDRODYSPLASIA, GREBE TYPE
Allele origin: germline
OMIM
Accession: SCV000029095.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Thomas JT Nature genetics 1997 PMID: 9288098

Record last updated Jun 17, 2019