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NM_000020.3(ACVRL1):c.313+11C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Sep 23, 2021)
Last evaluated:
Jul 14, 2021
Accession:
VCV000136293.7
Variation ID:
136293
Description:
single nucleotide variant
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NM_000020.3(ACVRL1):c.313+11C>T

Allele ID
139996
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51913361 (GRCh38) GRCh38 UCSC
12: 52307145 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.52307145C>T
NC_000012.12:g.51913361C>T
NG_009549.1:g.10944C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:51913360:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.43111 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.42633
The Genome Aggregation Database (gnomAD) 0.46206
The Genome Aggregation Database (gnomAD), exomes 0.40359
Trans-Omics for Precision Medicine (TOPMed) 0.44731
1000 Genomes Project 0.43111
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.47286
Links
ClinGen: CA295461
dbSNP: rs2071218
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 5 criteria provided, multiple submitters, no conflicts Jul 8, 2021 RCV000150155.7
Benign 5 criteria provided, multiple submitters, no conflicts Jul 14, 2021 RCV000612903.6
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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
572 583

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 28, 2017)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743468.1
Submitted: (Apr 17, 2018)
Evidence details
Benign
(Jul 08, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001774672.1
Submitted: (Aug 05, 2021)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000301535.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 30, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000166868.12
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: SCV000197041.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
313+11C>T in intron 3 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: SCV000379827.3
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
(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: SCV000602392.3
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Jul 14, 2021)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001768977.1
Submitted: (Aug 04, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733179.1
Submitted: (Apr 04, 2018)
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: SCV001916967.1
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 rs2071218...

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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