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NM_000020.3(ACVRL1):c.1377+4A>T

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 11, 2020)
Last evaluated:
Feb 4, 2020
Accession:
VCV000994236.1
Variation ID:
994236
Description:
single nucleotide variant
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NM_000020.3(ACVRL1):c.1377+4A>T

Allele ID
981814
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51919119 (GRCh38) GRCh38 UCSC
12: 52312903 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.16702A>T
NC_000012.11:g.52312903A>T
NC_000012.12:g.51919119A>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:51919118:A:T
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
Uncertain significance 1 criteria provided, single submitter Feb 4, 2020 RCV001287259.1
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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
572 583

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 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: SCV001473930.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The ACVRL1 c.1377+4A>T variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general … (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.

Record last updated Oct 08, 2021