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NM_000020.2(ACVRL1):c.1228C>T (p.Arg410Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 10, 2016)
Last evaluated:
Mar 3, 2016
Accession:
VCV000236551.1
Variation ID:
236551
Description:
single nucleotide variant
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NM_000020.2(ACVRL1):c.1228C>T (p.Arg410Cys)

Allele ID
241563
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51916215 (GRCh38) GRCh38 UCSC
12: 52309999 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.13798C>T
LRG_543t1:c.1228C>T LRG_543p1:p.Arg410Cys
NC_000012.11:g.52309999C>T
... more HGVS
Protein change
R410C
Other names
-
Canonical SPDI
NC_000012.12:51916214:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00003
Links
ClinGen: CA6573090
dbSNP: rs781770577
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 Mar 3, 2016 RCV000226319.1
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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
(Mar 03, 2016)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Invitae
Accession: SCV000282680.2
Submitted: (Jun 10, 2016)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 410 of the ACVRL1 protein (p.Arg410Cys). The arginine 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 rs781770577...

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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 08, 2021