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NM_000020.3(ACVRL1):c.-5-33C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Dec 11, 2020)
Last evaluated:
Jul 4, 2020
Accession:
VCV000136292.3
Variation ID:
136292
Description:
single nucleotide variant
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NM_000020.3(ACVRL1):c.-5-33C>T

Allele ID
139995
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51912437 (GRCh38) GRCh38 UCSC
12: 52306221 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.10020C>T
LRG_543t1:c.-5-33C>T
NC_000012.11:g.52306221C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:51912436:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.06410 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.07620
Trans-Omics for Precision Medicine (TOPMed) 0.07711
The Genome Aggregation Database (gnomAD) 0.07795
The Genome Aggregation Database (gnomAD), exomes 0.08382
Exome Aggregation Consortium (ExAC) 0.08605
1000 Genomes Project 0.06410
Links
dbSNP: rs2277382
ClinGen: CA289293
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Oct 22, 2013 RCV000123529.4
Benign 1 criteria provided, single submitter Jul 4, 2020 RCV000999793.2
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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
Benign
(Oct 22, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000166867.12
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jul 04, 2020)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000602398.3
Submitted: (Dec 11, 2020)
Evidence details

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 rs2277382...

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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