Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 17, 2019
Accession:
VCV000001913.4
Variation ID:
1913
Description:
1bp duplication
Help

NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)

Allele ID
16952
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
21q22.13
Genomic location
21: 36936789-36936790 (GRCh38) GRCh38 UCSC
21: 38309089-38309090 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001352518.1:c.655dup NP_001339447.1:p.Ile219fs frameshift
NR_148020.2:n.955dup
NR_148021.1:n.1112dup
... more HGVS
Protein change
I366fs, I219fs
Other names
-
Canonical SPDI
NC_000021.9:36936789:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA278024
OMIM: 609018.0008
dbSNP: rs773102942
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Dec 17, 2019 RCV000001990.6
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 17, 2019)
criteria provided, single submitter
Method: clinical testing
Holocarboxylase synthetase deficiency
Allele origin: germline
Invitae
Accession: SCV000949301.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Ile219Asnfs*58) in the HLCS gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Nov 01, 2001)
no assertion criteria provided
Method: literature only
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000022148.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Mutations in the holocarboxylase synthetase gene HLCS. Suzuki Y Human mutation 2005 PMID: 16134170
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. Yang X Human genetics 2001 PMID: 11735028

Text-mined citations for rs773102942...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021