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NM_016204.4(GDF2):c.1267G>A (p.Val423Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Dec 27, 2017
Accession:
VCV000541539.1
Variation ID:
541539
Description:
single nucleotide variant
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NM_016204.4(GDF2):c.1267G>A (p.Val423Met)

Allele ID
525657
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.22
Genomic location
10: 47325761 (GRCh38) GRCh38 UCSC
10: 48413601 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.48413601C>T
NC_000010.11:g.47325761G>A
NM_016204.4:c.1267G>A NP_057288.1:p.Val423Met missense
NG_033916.1:g.8272G>A
Protein change
V423M
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1358534877
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 27, 2017 RCV000651839.1
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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
36 134

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 27, 2017)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 5
Allele origin: germline
Invitae
Accession: SCV000773695.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces valine with methionine at codon 423 of the GDF2 protein (p.Val423Met). The valine residue is highly conserved and there is a ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 16, 2019