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NM_000557.5(GDF5):c.349G>T (p.Ala117Ser)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Dec 11, 2020)
Last evaluated:
Apr 24, 2020
Accession:
VCV000338322.6
Variation ID:
338322
Description:
single nucleotide variant
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NM_000557.5(GDF5):c.349G>T (p.Ala117Ser)

Allele ID
350937
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q11.22
Genomic location
20: 35437580 (GRCh38) GRCh38 UCSC
20: 34025360 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.34025360C>A
NC_000020.11:g.35437580C>A
NG_008076.3:g.22167G>T
... more HGVS
Protein change
A117S
Other names
-
Canonical SPDI
NC_000020.11:35437579:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00419 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00539
The Genome Aggregation Database (gnomAD), exomes 0.00121
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00431
Exome Aggregation Consortium (ExAC) 0.00149
Trans-Omics for Precision Medicine (TOPMed) 0.00520
1000 Genomes Project 0.00419
The Genome Aggregation Database (gnomAD) 0.00475
Trans-Omics for Precision Medicine (TOPMed) 0.00542
Links
ClinGen: CA9832369
dbSNP: rs151149144
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000304761.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000308891.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000343128.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000391609.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000402536.2
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000861454.2
Likely benign 1 criteria provided, single submitter Apr 24, 2020 RCV001285286.2
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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
41 124

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001001770.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Grebe syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000433712.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Fibular hypoplasia and complex brachydactyly
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000433711.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Multiple synostoses syndrome 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000433710.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Brachydactyly
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000433709.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Acromesomelic dysplasia, Hunter-Thompson type
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000433708.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Apr 24, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001471693.1
Submitted: (Dec 11, 2020)
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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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 rs151149144...

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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 Nov 27, 2021