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NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter) AND Holocarboxylase synthetase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 3, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001264060.4

Allele description [Variation Report for NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)]

NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)

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.1250T>A (p.Leu417Ter)
HGVS:
  • NC_000021.9:g.36936636A>T
  • NG_016193.2:g.58759T>A
  • NM_000411.8:c.809T>A
  • NM_001242784.3:c.809T>A
  • NM_001242785.2:c.809T>A
  • NM_001352514.2:c.1250T>AMANE SELECT
  • NM_001352515.2:c.809T>A
  • NM_001352516.2:c.809T>A
  • NM_001352517.1:c.809T>A
  • NM_001352518.2:c.809T>A
  • NP_000402.3:p.Leu270Ter
  • NP_001229713.1:p.Leu270Ter
  • NP_001229714.1:p.Leu270Ter
  • NP_001339443.1:p.Leu417Ter
  • NP_001339444.1:p.Leu270Ter
  • NP_001339445.1:p.Leu270Ter
  • NP_001339446.1:p.Leu270Ter
  • NP_001339447.1:p.Leu270Ter
  • NC_000021.8:g.38308936A>T
  • NR_148020.2:n.1109T>A
  • NR_148021.1:n.1266T>A
Protein change:
L270*
Links:
dbSNP: rs2066894484
NCBI 1000 Genomes Browser:
rs2066894484
Molecular consequence:
  • NR_148020.2:n.1109T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148021.1:n.1266T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000411.8:c.809T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001242784.3:c.809T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001242785.2:c.809T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352514.2:c.1250T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352515.2:c.809T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352516.2:c.809T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352517.1:c.809T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352518.2:c.809T>A - nonsense - [Sequence Ontology: SO:0001587]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001442160Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))		Likely pathogenic
(May 3, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV001442160.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024