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NM_000191.3(HMGCL):c.349-8G>T

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 16, 2019
Accession:
VCV001100082.1
Variation ID:
1100082
Description:
single nucleotide variant
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NM_000191.3(HMGCL):c.349-8G>T

Allele ID
1088854
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.11
Genomic location
1: 23814346 (GRCh38) GRCh38 UCSC
1: 24140836 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.24140836C>A
NC_000001.11:g.23814346C>A
NG_013061.1:g.16114G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:23814345:C: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 benign 1 criteria provided, single submitter Apr 16, 2019 RCV001422595.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HMGCL - - GRCh38
GRCh37
229 240

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 16, 2019)
criteria provided, single submitter
Method: clinical testing
Deficiency of hydroxymethylglutaryl-CoA lyase
Allele origin: germline
Invitae
Accession: SCV001625151.1
Submitted: (Jan 07, 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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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