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NM_001114753.3(ENG):c.370del (p.Leu124fs)

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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:
VCV000983203.1
Variation ID:
983203
Description:
1bp deletion
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NM_001114753.3(ENG):c.370del (p.Leu124fs)

Allele ID
970603
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127826663 (GRCh38) GRCh38 UCSC
9: 130588942 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130588943del
NC_000009.12:g.127826664del
NM_001114753.3:c.370del MANE Select NP_001108225.1:p.Leu124fs frameshift
... more HGVS
Protein change
L124fs
Other names
-
Canonical SPDI
NC_000009.12:127826662:GG:G
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 RCV001263074.1
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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
591 884

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: SCV001441152.1
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