NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) AND Holocarboxylase synthetase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Jul 22, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000001984.6

Allele description [Variation Report for NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)]

NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)

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.1151T>C (p.Leu384Pro)
HGVS:
  • NC_000021.9:g.36936735A>G
  • NG_016193.2:g.58660T>C
  • NM_000411.8:c.710T>C
  • NM_001242784.3:c.710T>C
  • NM_001242785.2:c.710T>C
  • NM_001352514.2:c.1151T>CMANE SELECT
  • NM_001352515.2:c.710T>C
  • NM_001352516.2:c.710T>C
  • NM_001352517.1:c.710T>C
  • NM_001352518.1:c.710T>C
  • NP_000402.3:p.Leu237Pro
  • NP_001229713.1:p.Leu237Pro
  • NP_001229714.1:p.Leu237Pro
  • NP_001339443.1:p.Leu384Pro
  • NP_001339444.1:p.Leu237Pro
  • NP_001339445.1:p.Leu237Pro
  • NP_001339446.1:p.Leu237Pro
  • NP_001339447.1:p.Leu237Pro
  • NC_000021.8:g.38309035A>G
  • NM_000411.6:c.710T>C
  • NR_148020.2:n.1010T>C
  • NR_148021.1:n.1167T>C
  • P50747:p.Leu237Pro
Protein change:
L237P; LEU237PRO
Links:
UniProtKB: P50747#VAR_005084; OMIM: 609018.0002; dbSNP: rs119103227
NCBI 1000 Genomes Browser:
rs119103227
Molecular consequence:
  • NM_000411.8:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242784.3:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242785.2:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352514.2:c.1151T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352515.2:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352516.2:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352517.1:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352518.1:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148020.2:n.1010T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148021.1:n.1167T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000022142OMIMno assertion criteria providedPathogenic
(Oct 1, 1994)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000485745Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 22, 2016)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.

Aoki Y, Suzuki Y, Sakamoto O, Li X, Takahashi K, Ohtake A, Sakuta R, Ohura T, Miyabayashi S, Narisawa K.

Biochim Biophys Acta. 1995 Dec 12;1272(3):168-74.

PubMed [citation]
PMID:
8541348

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Kure S, Taheri S, Christensen E, Inui K, Kubota M, Ohira M, Ohki M, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Minoshima S, Shimizu N, Narisawa K, Matsubara Y, Suzuki Y.

Hum Genet. 2001 Nov;109(5):526-34. Epub 2001 Oct 5.

PubMed [citation]
PMID:
11735028
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000022142.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the leu237-to-pro (L237P) mutation in the HLCS gene that was found in compound heterozygous state in a cell line from a patient with HLCS deficiency (253270) by Suzuki et al. (1994), see 609018.0001.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000485745.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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