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NM_000020.2(ACVRL1):c.208G>A (p.Gly70Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 26, 2021)
Last evaluated:
Nov 18, 2019
Accession:
VCV000572085.3
Variation ID:
572085
Description:
single nucleotide variant
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NM_000020.2(ACVRL1):c.208G>A (p.Gly70Arg)

Allele ID
571902
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51913245 (GRCh38) GRCh38 UCSC
12: 52307029 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.10828G>A
NC_000012.11:g.52307029G>A
NC_000012.12:g.51913245G>A
... more HGVS
Protein change
G70R
Other names
-
Canonical SPDI
NC_000012.12:51913244:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1439294840
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 Dec 3, 2018 RCV000693390.2
Uncertain significance 1 criteria provided, single submitter Nov 18, 2019 RCV001507803.1
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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
(Dec 03, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 2
Allele origin: germline
Invitae
Accession: SCV000821258.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glycine with arginine at codon 70 of the ACVRL1 protein (p.Gly70Arg). The glycine residue is highly conserved and there is a … (more)
Uncertain significance
(Nov 18, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713596.1
Submitted: (May 26, 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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs1439294840...

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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 Jun 14, 2021