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NM_000020.3(ACVRL1):c.925G>C (p.Gly309Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 20, 2018
Accession:
VCV000654628.1
Variation ID:
654628
Description:
single nucleotide variant
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NM_000020.3(ACVRL1):c.925G>C (p.Gly309Arg)

Allele ID
641245
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51915377 (GRCh38) GRCh38 UCSC
12: 52309161 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000020.2:c.925G>C NP_000011.2:p.Gly309Arg missense
NC_000012.11:g.52309161G>C
NC_000012.12:g.51915377G>C
... more HGVS
Protein change
G309R
Other names
-
Canonical SPDI
NC_000012.12:51915376:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555153133
VarSome
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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 Nov 20, 2018 RCV000810629.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACVRL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
573 584

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 20, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 2
Allele origin: germline
Invitae
Accession: SCV000950850.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces glycine with arginine at codon 309 of the ACVRL1 protein (p.Gly309Arg). The glycine residue is highly conserved and there is a … (more)

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 rs1555153133...

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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 24, 2021