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NM_014362.4(HIBCH):c.457C>T (p.His153Tyr)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 6, 2020)
Last evaluated:
Dec 1, 2019
Accession:
VCV000972924.1
Variation ID:
972924
Description:
single nucleotide variant
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NM_014362.4(HIBCH):c.457C>T (p.His153Tyr)

Allele ID
961232
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q32.2
Genomic location
2: 190261216 (GRCh38) GRCh38 UCSC
2: 191125942 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.191125942G>A
NC_000002.12:g.190261216G>A
NG_017062.1:g.63830C>T
... more HGVS
Protein change
H153Y
Other names
-
Canonical SPDI
NC_000002.12:190261215:G:A
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
Likely pathogenic 1 criteria provided, single submitter Dec 1, 2019 RCV001249210.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HIBCH - - GRCh38
GRCh37
99 124

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 01, 2019)
criteria provided, single submitter
Method: clinical testing
Beta-hydroxyisobutyryl-CoA deacylase deficiency
Allele origin: germline
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder,Children's Hospital of Fudan University
Accession: SCV001422464.1
Submitted: (Mar 06, 2020)
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.

Record last updated Oct 08, 2021