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NM_000020.2(ACVRL1):c.*45del

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Dec 11, 2020)
Last evaluated:
Mar 9, 2020
Accession:
VCV000309444.3
Variation ID:
309444
Description:
1bp deletion
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NM_000020.2(ACVRL1):c.*45del

Allele ID
333281
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51920932 (GRCh38) GRCh38 UCSC
12: 52314716 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.18521del
LRG_543t1:c.*45del
NC_000012.11:g.52314722del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:51920931:GGGGGGG:GGGGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA6573187
dbSNP: rs761647766
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000369205.2
Likely benign 1 criteria provided, single submitter Mar 9, 2020 RCV000755783.2
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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
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary Hemorrhagic Telangiectasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000379835.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Mar 09, 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: SCV000883355.2
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 rs761647766...

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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