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NM_000020.3(ACVRL1):c.1246+9C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 23, 2021)
Last evaluated:
Jul 9, 2021
Accession:
VCV000254708.7
Variation ID:
254708
Description:
single nucleotide variant
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NM_000020.3(ACVRL1):c.1246+9C>T

Allele ID
254614
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51916242 (GRCh38) GRCh38 UCSC
12: 52310026 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000020.2:c.1246+9C>T
NC_000012.11:g.52310026C>T
NC_000012.12:g.51916242C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:51916241:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00978 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00949
Exome Aggregation Consortium (ExAC) 0.00317
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00938
1000 Genomes Project 0.00978
The Genome Aggregation Database (gnomAD), exomes 0.00230
The Genome Aggregation Database (gnomAD) 0.00896
Links
ClinGen: CA6573097
dbSNP: rs115378744
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 6 criteria provided, multiple submitters, no conflicts Jul 9, 2021 RCV000249414.4
Benign 2 criteria provided, multiple submitters, no conflicts Nov 24, 2020 RCV000456288.6
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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
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000301533.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Feb 08, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000714198.1
Submitted: (Mar 26, 2018)
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
(Feb 21, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000711278.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
1246+9C>T in intron 8 of ACVRL1: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000379834.3
Submitted: (Feb 20, 2020)
Evidence details
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)
Benign
(Nov 24, 2020)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Invitae
Accession: SCV000562553.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 09, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001774675.1
Submitted: (Aug 05, 2021)
Evidence details
Comment:
Variant summary: ACVRL1 c.1246+9C>T alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered … (more)
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001929726.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001921854.1
Submitted: (Sep 23, 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 rs115378744...

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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 Sep 24, 2021