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NM_000020.3(ACVRL1):c.-5-227C>G

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 15, 2021)
Last evaluated:
Jul 22, 2018
Accession:
VCV000810906.3
Variation ID:
810906
Description:
single nucleotide variant
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NM_000020.3(ACVRL1):c.-5-227C>G

Allele ID
799691
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51912243 (GRCh38) GRCh38 UCSC
12: 52306027 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.9826C>G
NC_000012.11:g.52306027C>G
NC_000012.12:g.51912243C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:51912242:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.13219 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.10128
Trans-Omics for Precision Medicine (TOPMed) 0.09670
1000 Genomes Project 0.13219
Links
dbSNP: rs2277381
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jul 22, 2018 RCV001000283.1
Benign 1 criteria provided, single submitter Jul 8, 2018 RCV001655660.2
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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
Benign
(Jul 22, 2018)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001156919.1
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Jul 08, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001871430.1
Submitted: (Sep 15, 2021)
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 rs2277381...

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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