Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000020.3(ACVRL1):c.129dup (p.Pro44fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 14, 2019
Accession:
VCV000962679.2
Variation ID:
962679
Description:
1bp duplication
Help

NM_000020.3(ACVRL1):c.129dup (p.Pro44fs)

Allele ID
948084
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51913162-51913163 (GRCh38) GRCh38 UCSC
12: 52306946-52306947 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.52306950dup
NC_000012.12:g.51913166dup
NG_009549.1:g.10749dup
... more HGVS
Protein change
P44fs
Other names
-
Canonical SPDI
NC_000012.12:51913162:GGGG:GGGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 14, 2019 RCV001236580.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 14, 2019)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Invitae
Accession: SCV001409312.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Pro44Alafs*125) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Abdalla SA Journal of medical genetics 2006 PMID: 15879500

Record last updated Oct 08, 2021