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NM_000020.3(ACVRL1):c.1378-339T>G

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 17, 2021)
Last evaluated:
May 10, 2021
Accession:
VCV000993782.3
Variation ID:
993782
Description:
single nucleotide variant
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NM_000020.3(ACVRL1):c.1378-339T>G

Allele ID
981821
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51920420 (GRCh38) GRCh38 UCSC
12: 52314204 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.18003T>G
NC_000012.11:g.52314204T>G
NC_000012.12:g.51920420T>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:51920419:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 RCV001285809.1
Benign 1 criteria provided, single submitter May 10, 2021 RCV001673044.2
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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
(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: SCV001472298.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(May 10, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001886908.1
Submitted: (Sep 17, 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.

Record last updated Oct 08, 2021