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NM_000020.3(ACVRL1):c.623_624del (p.Val208fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2017)
Last evaluated:
Dec 24, 2016
Accession:
VCV000411305.1
Variation ID:
411305
Description:
2bp microsatellite
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NM_000020.3(ACVRL1):c.623_624del (p.Val208fs)

Allele ID
399520
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
12q13.13
Genomic location
12: 51914066-51914067 (GRCh38) GRCh38 UCSC
12: 52307850-52307851 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.11650TG[2]
NM_000020.2:c.623_624delTG frameshift
NC_000012.11:g.52307851TG[2]
... more HGVS
Protein change
V208fs
Other names
-
Canonical SPDI
NC_000012.12:51914065:GTGTGTG:GTGTG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16614048
dbSNP: rs1060503240
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Dec 24, 2016 RCV000470739.1
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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
573 584

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 24, 2016)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Invitae
Accession: SCV000552405.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change deletes 2 nucleotides from exon 5 of the ACVRL1 mRNA (c.623_624delTG), causing a frameshift at codon 208. This creates a premature translational … (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.

Text-mined citations for rs1060503240...

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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