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NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 18, 2017)
Last evaluated:
Jun 17, 2017
Accession:
VCV000428585.1
Variation ID:
428585
Description:
single nucleotide variant
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NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)

Allele ID
420143
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.13
Genomic location
21: 36765148 (GRCh38) GRCh38 UCSC
21: 38137449 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.38137449C>T
NC_000021.9:g.36765148C>T
NG_016193.2:g.230247G>A
... more HGVS
Protein change
S515N, S662N
Other names
-
Canonical SPDI
NC_000021.9:36765147:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
The Genome Aggregation Database (gnomAD) 0.00006
Links
ClinGen: CA10020389
dbSNP: rs773398782
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 Jun 17, 2017 RCV000492067.1
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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
(Jun 17, 2017)
criteria provided, single submitter
Method: clinical testing
Holocarboxylase synthetase deficiency
(Autosomal recessive inheritance)
Allele origin: unknown
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital
Accession: SCV000579458.1
Submitted: (Jun 18, 2017)
Evidence details
Comment:
the patient carry compound heterozygote mutation, one is confirmed to be pathogenic. [c.1522C>T (p.Arg508Trp)]+[ c.1544G>A(p.Ser515Asn)]

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.

Text-mined citations for rs773398782...

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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