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NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Aug 1, 2020
Accession:
VCV000161202.12
Variation ID:
161202
Description:
single nucleotide variant
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NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser)

Allele ID
171152
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51913125 (GRCh38) GRCh38 UCSC
12: 52306909 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.52306909C>T
NC_000012.12:g.51913125C>T
NM_000020.2:c.88C>T NP_000011.2:p.Pro30Ser missense
... more HGVS
Protein change
P30S
Other names
-
Canonical SPDI
NC_000012.12:51913124:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00037
Trans-Omics for Precision Medicine (TOPMed) 0.00009
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD) 0.00067
The Genome Aggregation Database (gnomAD), exomes 0.00025
1000 Genomes Project 0.00040
Links
UniProtKB: P37023#VAR_070308
dbSNP: rs149664056
ClinGen: CA211326
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 3 criteria provided, multiple submitters, no conflicts Aug 1, 2020 RCV000988853.4
Uncertain significance 1 criteria provided, single submitter Oct 1, 2018 RCV000864382.3
Likely benign 1 no assertion criteria provided Jun 1, 2014 RCV000148355.1
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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
568 579

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 01, 2020)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Invitae
Accession: SCV001005175.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: unknown
Mendelics
Accession: SCV001138744.1
Submitted: (Oct 22, 2019)
Evidence details
Likely benign
(Jan 01, 2018)
criteria provided, single submitter
Method: research
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001439471.1
Submitted: (May 21, 2020)
Evidence details
Publications
PubMed (1)
Comment:
BS1 +BP2
Uncertain significance
(Oct 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001148749.6
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Jun 01, 2014)
no assertion criteria provided
Method: research
Haemorrhagic telangiectasia 2
(Autosomal dominant inheritance)
Allele origin: germline
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190045.1
Submitted: (Aug 28, 2014)
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
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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Title Author Journal Year Link
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. Shovlin CL Blood 2020 PMID: 32573726

Text-mined citations for rs149664056...

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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 Jul 10, 2021