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NM_016204.4(GDF2):c.911C>T (p.Thr304Met)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 2, 2021)
Last evaluated:
Oct 28, 2020
Accession:
VCV000474673.7
Variation ID:
474673
Description:
single nucleotide variant
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NM_016204.4(GDF2):c.911C>T (p.Thr304Met)

Allele ID
460756
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.22
Genomic location
10: 47325405 (GRCh38) GRCh38 UCSC
10: 48413957 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.48413957G>A
NC_000010.11:g.47325405C>T
NG_033916.1:g.7916C>T
NM_016204.4:c.911C>T MANE Select NP_057288.1:p.Thr304Met missense
Protein change
T304M
Other names
-
Canonical SPDI
NC_000010.11:47325404:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00459 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00161
1000 Genomes Project 0.00459
Trans-Omics for Precision Medicine (TOPMed) 0.00512
The Genome Aggregation Database (gnomAD), exomes 0.00120
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00523
The Genome Aggregation Database (gnomAD) 0.00545
Links
ClinGen: CA5487995
dbSNP: rs75024165
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 17, 2019 RCV000757325.6
Benign 1 criteria provided, single submitter Oct 11, 2016 RCV000597100.1
Benign 1 criteria provided, single submitter Oct 28, 2020 RCV001082466.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Benign
(Oct 11, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000701629.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(May 06, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885504.1
Submitted: (Oct 10, 2018)
Evidence details
Benign
(Oct 28, 2020)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 5
Allele origin: germline
Invitae
Accession: SCV000654689.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Dec 17, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001822797.1
Submitted: (Sep 02, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GDF2 - - - -

Text-mined citations for rs75024165...

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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 Sep 29, 2021