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NM_001114753.3(ENG):c.219+22C>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(3);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jul 4, 2021)
Last evaluated:
Oct 30, 2020
Accession:
VCV000237026.10
Variation ID:
237026
Description:
single nucleotide variant
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NM_001114753.3(ENG):c.219+22C>T

Allele ID
240459
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127843072 (GRCh38) GRCh38 UCSC
9: 130605351 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130605351G>A
NC_000009.12:g.127843072G>A
NM_001114753.3:c.219+22C>T MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:127843071:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00131
Trans-Omics for Precision Medicine (TOPMed) 0.00073
The Genome Aggregation Database (gnomAD) 0.00073
Links
ClinGen: CA5253205
dbSNP: rs370257876
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 Apr 25, 2016 RCV000454889.1
Likely benign 1 criteria provided, single submitter May 1, 2017 RCV000999223.1
Benign 1 criteria provided, single submitter Oct 30, 2020 RCV001513011.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Aug 10, 2018 RCV000227257.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ENG Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
589 879

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 30, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000283536.2
Submitted: (Jun 10, 2016)
Evidence details
Likely benign
(Apr 25, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000539098.1
Submitted: (Apr 03, 2017)
Evidence details
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Benign
(Aug 10, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 1
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001156617.1
Submitted: (Aug 05, 2019)
Evidence details
Uncertain significance
(Jan 01, 2018)
criteria provided, single submitter
Method: research
Hereditary hemorrhagic telangiectasia type 1
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001439443.1
Submitted: (May 21, 2020)
Evidence details
Publications
PubMed (1)
Comment:
PM2+PP4
Benign
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV001720537.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001155739.6
Submitted: (Jul 04, 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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Title Author Journal Year Link
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. Shovlin CL Blood 2020 PMID: 32573726

Text-mined citations for rs370257876...

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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