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.9G>A (p.Leu3=)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Uncertain significance(1); Likely benign(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2
First in ClinVar:
Dec 17, 2019
Most recent Submission:
May 16, 2022
Last evaluated:
Dec 12, 2021
Accession:
VCV000698538.9
Variation ID:
698538
Description:
single nucleotide variant
Help

NM_000020.3(ACVRL1):c.9G>A (p.Leu3=)

Allele ID
688025
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51912483 (GRCh38) GRCh38 UCSC
12: 52306267 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000020.3:c.9G>A MANE Select NP_000011.2:p.Leu3= synonymous
NM_001077401.2:c.9G>A NP_001070869.1:p.Leu3= synonymous
NC_000012.12:g.51912483G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:51912482:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD) 0.00010
The Genome Aggregation Database (gnomAD) 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Links
dbSNP: rs779236098
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 12, 2021 RCV000865986.9
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
667 677

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV001268635.1
First in ClinVar: May 31, 2020
Last updated: May 31, 2020
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Dec 12, 2021)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001007020.4
First in ClinVar: Dec 17, 2019
Last updated: May 16, 2022

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
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 rs779236098...

Help
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 Aug 24, 2022