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NM_000020.3(ACVRL1):c.1377+45T>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Dec 11, 2020)
Last evaluated:
Sep 1, 2020
Accession:
VCV000254709.4
Variation ID:
254709
Description:
single nucleotide variant
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NM_000020.3(ACVRL1):c.1377+45T>C

Allele ID
254616
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51919160 (GRCh38) GRCh38 UCSC
12: 52312944 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.16743T>C
LRG_543t1:c.1377+45T>C
NC_000012.11:g.52312944T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:51919159:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.34345 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.28429
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.32493
1000 Genomes Project 0.34345
The Genome Aggregation Database (gnomAD) 0.31371
The Genome Aggregation Database (gnomAD) 0.31560
Trans-Omics for Precision Medicine (TOPMed) 0.32229
The Genome Aggregation Database (gnomAD), exomes 0.26394
Trans-Omics for Precision Medicine (TOPMed) 0.32951
Links
ClinGen: CA6573139
dbSNP: rs706815
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter - RCV000254416.3
Benign 1 criteria provided, single submitter Sep 1, 2020 RCV000999733.3
Benign 1 criteria provided, single submitter Jun 16, 2018 RCV000833921.1
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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
580 590

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000301534.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000975689.1
Submitted: (Apr 12, 2019)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Sep 01, 2020)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602403.3
Submitted: (Dec 11, 2020)
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 rs706815...

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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 Nov 27, 2021