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NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 14, 2020
Accession:
VCV000373609.5
Variation ID:
373609
Description:
single nucleotide variant
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NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala)

Allele ID
360045
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51919086 (GRCh38) GRCh38 UCSC
12: 52312870 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.52312870A>G
NC_000012.12:g.51919086A>G
NM_001077401.2:c.1348A>G NP_001070869.1:p.Thr450Ala missense
... more HGVS
Protein change
T450A
Other names
-
Canonical SPDI
NC_000012.12:51919085:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00029
Exome Aggregation Consortium (ExAC) 0.00030
The Genome Aggregation Database (gnomAD), exomes 0.00039
Trans-Omics for Precision Medicine (TOPMed) 0.00027
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
Links
ClinGen: CA6573123
dbSNP: rs146206499
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 14, 2020 RCV000863196.4
Uncertain significance 1 criteria provided, single submitter Nov 29, 2016 RCV000413333.1
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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
564 575

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000492219.1
Submitted: (Dec 21, 2016)
Evidence details
Comment:
A variant of uncertain significance has been identified in the ACVRL1 gene. The T450A variant has not been published as a pathogenic variant, nor has … (more)
Likely 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: SCV001272393.1
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
(Oct 14, 2020)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Invitae
Accession: SCV001003815.3
Submitted: (Jan 07, 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 rs146206499...

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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 Jun 14, 2021