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NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 30, 2020)
Last evaluated:
Mar 30, 2019
Accession:
VCV000983894.1
Variation ID:
983894
Description:
single nucleotide variant
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NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)

Allele ID
972348
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.13
Genomic location
21: 36896981 (GRCh38) GRCh38 UCSC
21: 38269281 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.38269281C>A
NC_000021.9:g.36896981C>A
NG_016193.2:g.98414G>T
... more HGVS
Protein change
E444*, E591*
Other names
-
Canonical SPDI
NC_000021.9:36896980: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 pathogenic 1 no assertion criteria provided Mar 30, 2019 RCV001263897.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HLCS - - GRCh38
GRCh37
512 578

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 30, 2019)
no assertion criteria provided
Method: clinical testing
Holocarboxylase synthetase deficiency
Allele origin: unknown
Myriad Women's Health, Inc.
Accession: SCV001441995.1
Submitted: (Oct 30, 2020)
Comment:
NM_000411.6(HLCS):c.1330G>T(E444*) is expected to be pathogenic in the context of holocarboxylase synthetase deficiency. This variant is predicted to lead to an abnormal or absent protein … (more)
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