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NM_000020.3(ACVRL1):c.1378-216C>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 20, 2021)
Last evaluated:
Aug 28, 2020
Accession:
VCV000811605.5
Variation ID:
811605
Description:
single nucleotide variant
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NM_000020.3(ACVRL1):c.1378-216C>T

Allele ID
799708
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51920543 (GRCh38) GRCh38 UCSC
12: 52314327 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.18126C>T
NC_000012.11:g.52314327C>T
NC_000012.12:g.51920543C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:51920542:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00419 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01163
1000 Genomes Project 0.00419
The Genome Aggregation Database (gnomAD) 0.01171
Links
dbSNP: rs111710113
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 Aug 28, 2020 RCV001001705.2
Likely benign 1 criteria provided, single submitter Jun 26, 2018 RCV001574856.3
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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
572 583

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Aug 28, 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: SCV001159281.2
Submitted: (Dec 11, 2020)
Evidence details
Likely benign
(Jun 26, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001801740.1
Submitted: (Aug 20, 2021)
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 rs111710113...

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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