Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_016204.4(GDF2):c.346+10C>T

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000515941.5
Variation ID:
515941
Description:
single nucleotide variant
Help

NM_016204.4(GDF2):c.346+10C>T

Allele ID
502795
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.22
Genomic location
10: 47323024 (GRCh38) GRCh38 UCSC
10: 48416338 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.11:g.47323024C>T
NC_000010.10:g.48416338G>A
NM_016204.4:c.346+10C>T MANE Select
NG_033916.1:g.5535C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:47323023:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00579 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00204
Trans-Omics for Precision Medicine (TOPMed) 0.00234
Exome Aggregation Consortium (ExAC) 0.00289
1000 Genomes Project 0.00579
The Genome Aggregation Database (gnomAD), exomes 0.00293
Links
ClinGen: CA5488156
dbSNP: rs117345807
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Dec 1, 2020 RCV000651843.5
Benign 1 criteria provided, single submitter Mar 8, 2018 RCV000606956.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 08, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000728229.1
Submitted: (Mar 26, 2018)
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)
Benign
(Feb 28, 2020)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 5
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001472887.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 5
Allele origin: germline
Invitae
Accession: SCV000773699.4
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
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

Help
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 rs117345807...

Help
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 Jun 14, 2021