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NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 11, 2020)
Last evaluated:
Nov 1, 2019
Accession:
VCV000993817.1
Variation ID:
993817
Description:
4bp microsatellite
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NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs)

Allele ID
981807
Variant type
Microsatellite
Variant length
4 bp
Cytogenetic location
12q13.13
Genomic location
12: 51913331-51913332 (GRCh38) GRCh38 UCSC
12: 52307115-52307116 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.10915GT[4]
NC_000012.11:g.52307116GT[4]
NC_000012.12:g.51913332GT[4]
... more HGVS
Protein change
S100fs
Other names
-
Canonical SPDI
NC_000012.12:51913331:GTGT:GTGTGTGT
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
Pathogenic 1 criteria provided, single submitter Nov 1, 2019 RCV001285903.1
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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
(Nov 01, 2019)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001472408.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The ACVRL1 c.295_298dupGTGT; p.Ser100fs variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from … (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