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NM_016204.4(GDF2):c.1290G>A (p.Ter430=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Sep 3, 2020
Accession:
VCV000374605.12
Variation ID:
374605
Description:
single nucleotide variant
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NM_016204.4(GDF2):c.1290G>A (p.Ter430=)

Allele ID
361491
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.22
Genomic location
10: 47325784 (GRCh38) GRCh38 UCSC
10: 48413578 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.48413578C>T
NC_000010.11:g.47325784G>A
NG_033916.1:g.8295G>A
NM_016204.4:c.1290G>A MANE Select NP_057288.1:p.Ter430= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:47325783:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00018
The Genome Aggregation Database (gnomAD) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00024
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Exome Aggregation Consortium (ExAC) 0.00038
Links
ClinGen: CA5487909
dbSNP: rs139568056
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 3, 2020 RCV001084086.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 16, 2018 RCV000415976.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GDF2 No evidence available No evidence available GRCh38
GRCh37
97 203

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000493445.13
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Mar 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000982190.1
Submitted: (Apr 12, 2019)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Sep 03, 2020)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 5
Allele origin: germline
Invitae
Accession: SCV000773700.4
Submitted: (Jan 07, 2021)
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 rs139568056...

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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