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NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2
First in ClinVar:
Oct 30, 2020
Most recent Submission:
May 16, 2022
Last evaluated:
Sep 1, 2021
Accession:
VCV000982488.6
Variation ID:
982488
Description:
single nucleotide variant
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NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)

Allele ID
970619
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51915282 (GRCh38) GRCh38 UCSC
12: 52309066 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000020.3:c.830C>G MANE Select NP_000011.2:p.Thr277Arg missense
NM_001077401.2:c.830C>G NP_001070869.1:p.Thr277Arg missense
NC_000012.12:g.51915282C>G
... more HGVS
Protein change
T277R
Other names
-
Canonical SPDI
NC_000012.12:51915281:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs750085854
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 1, 2021 RCV001262082.6
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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
667 677

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Jan 01, 2018)
criteria provided, single submitter
Method: research
Telangiectasia, hereditary hemorrhagic, type 2
Affected status: yes
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001439469.1
First in ClinVar: Oct 30, 2020
Last updated: Oct 30, 2020
Publications:
PubMed (1)
PubMed: 32573726
Comment:
PM2+PM1+PP4
Number of individuals with the variant: 1
Pathogenic
(Sep 01, 2021)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001545882.2
First in ClinVar: Mar 22, 2021
Last updated: May 16, 2022

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
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. Shovlin CL Blood 2020 PMID: 32573726

Text-mined citations for rs750085854...

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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 Aug 24, 2022