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NM_000020.2(ACVRL1):c.851C>T (p.Ser284Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Nov 18, 2017
Accession:
VCV000533346.1
Variation ID:
533346
Description:
single nucleotide variant
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NM_000020.2(ACVRL1):c.851C>T (p.Ser284Phe)

Allele ID
527250
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51915303 (GRCh38) GRCh38 UCSC
12: 52309087 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.12886C>T
LRG_543t1:c.851C>T LRG_543p1:p.Ser284Phe
NC_000012.11:g.52309087C>T
... more HGVS
Protein change
S284F
Other names
-
Canonical SPDI
NC_000012.12:51915302:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA384900555
dbSNP: rs768643771
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 18, 2017 RCV000640439.1
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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 18, 2017)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Invitae
Accession: SCV000762030.1
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces serine with phenylalanine at codon 284 of the ACVRL1 protein (p.Ser284Phe). The serine 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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Title Author Journal Year Link
Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. Abdalla SA Human mutation 2005 PMID: 15712271

Text-mined citations for rs768643771...

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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