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NM_001114753.3(ENG):c.523+229_991+123del

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 21, 2020)
Last evaluated:
Jan 1, 2018
Accession:
VCV000982462.1
Variation ID:
982462
Description:
1.6kb deletion
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NM_001114753.3(ENG):c.523+229_991+123del

Allele ID
970584
Variant type
Deletion
Variant length
1,605 bp
Cytogenetic location
9q34.11
Genomic location
9: 127824677-127826281 (GRCh38) GRCh38 UCSC
9: 130586956-130588560 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130586958_130588562del
NC_000009.12:g.127824679_127826283del
NM_001114753.3:c.523+229_991+123del MANE Select splice acceptor splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jan 1, 2018 RCV001262044.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ENG Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
590 883

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(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: SCV001439422.1
Submitted: (May 21, 2020)
Evidence details
Publications
PubMed (1)
Comment:
PVS1+PM2+PP4

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

Record last updated Apr 12, 2021