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NM_000020.3(ACVRL1):c.1411T>G (p.Cys471Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 18, 2020
Accession:
VCV001015010.1
Variation ID:
1015010
Description:
single nucleotide variant
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NM_000020.3(ACVRL1):c.1411T>G (p.Cys471Gly)

Allele ID
1010510
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51920792 (GRCh38) GRCh38 UCSC
12: 52314576 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.52314576T>G
NC_000012.12:g.51920792T>G
NG_009549.1:g.18375T>G
... more HGVS
Protein change
C471G
Other names
-
Canonical SPDI
NC_000012.12:51920791:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Feb 18, 2020 RCV001313821.1
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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
(Feb 18, 2020)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Invitae
Accession: SCV001504328.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces cysteine with glycine at codon 471 of the ACVRL1 protein (p.Cys471Gly). The cysteine 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.

Record last updated Oct 08, 2021