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NM_000020.3(ACVRL1):c.470T>C (p.Leu157Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
May 23, 2017
Accession:
VCV000464764.1
Variation ID:
464764
Description:
single nucleotide variant
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NM_000020.3(ACVRL1):c.470T>C (p.Leu157Pro)

Allele ID
463051
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51913715 (GRCh38) GRCh38 UCSC
12: 52307499 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.52307499T>C
NC_000012.12:g.51913715T>C
NG_009549.1:g.11298T>C
... more HGVS
Protein change
L157P
Other names
-
Canonical SPDI
NC_000012.12:51913714:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA384899052
dbSNP: rs1371249289
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 May 23, 2017 RCV000551286.1
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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
(May 23, 2017)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Invitae
Accession: SCV000639402.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces leucine with proline at codon 157 of the ACVRL1 protein (p.Leu157Pro). The leucine 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 rs1371249289...

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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 24, 2021