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NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter) AND Holocarboxylase synthetase deficiency

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003983772.1

Allele description [Variation Report for NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)]

NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)

Gene:
HLCS:holocarboxylase synthetase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.13
Genomic location:
Preferred name:
NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)
HGVS:
  • NC_000021.9:g.36930261G>C
  • NG_016193.2:g.65134C>G
  • NM_000411.8:c.1169C>G
  • NM_001242784.3:c.1169C>G
  • NM_001242785.2:c.1169C>G
  • NM_001352514.2:c.1610C>GMANE SELECT
  • NM_001352515.2:c.1169C>G
  • NM_001352516.2:c.1169C>G
  • NM_001352517.1:c.1169C>G
  • NM_001352518.2:c.1169C>G
  • NP_000402.3:p.Ser390Ter
  • NP_001229713.1:p.Ser390Ter
  • NP_001229714.1:p.Ser390Ter
  • NP_001339443.1:p.Ser537Ter
  • NP_001339444.1:p.Ser390Ter
  • NP_001339445.1:p.Ser390Ter
  • NP_001339446.1:p.Ser390Ter
  • NP_001339447.1:p.Ser390Ter
  • NC_000021.8:g.38302561G>C
  • NR_148020.2:n.1469C>G
  • NR_148021.1:n.1626C>G
Protein change:
S390*
Molecular consequence:
  • NR_148020.2:n.1469C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148021.1:n.1626C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000411.8:c.1169C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001242784.3:c.1169C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001242785.2:c.1169C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352514.2:c.1610C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352515.2:c.1169C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352516.2:c.1169C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352517.1:c.1169C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352518.2:c.1169C>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Holocarboxylase synthetase deficiency
Synonyms:
MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
Identifiers:
MONDO: MONDO:0009666; MedGen: C0268581; Orphanet: 79242; OMIM: 253270

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004800846Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital
no assertion criteria provided

(ACMG Guidelines, 2015)
Likely pathogenicgermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hangermlineyes1not providednot provided1not providedclinical testing

Citations

PMC

XML Exception at /pubmed_gen/rbuild/version/20240318/cidx/2.10.1/src/internal/txxmldoc/XmlDocument.cpp(353): code=4, XML: Conversion failed

Details of each submission

From Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital, SCV004800846.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Han1not providednot providedclinical testingnot provided

Description

PVS1+PM2_P

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 16, 2024