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NM_001352514.2(HLCS):c.712_713del (p.Arg238fs) AND Holocarboxylase synthetase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 2, 2018
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:
RCV000672511.1

Allele description [Variation Report for NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)]

NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)

Gene:
HLCS:holocarboxylase synthetase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.13
Genomic location:
Preferred name:
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)
HGVS:
  • NC_000021.9:g.36937173_36937174del
  • NG_016193.2:g.58221_58222del
  • NM_000411.8:c.271_272del
  • NM_001242784.3:c.271_272del
  • NM_001242785.2:c.271_272del
  • NM_001352514.2:c.712_713delMANE SELECT
  • NM_001352515.2:c.271_272del
  • NM_001352516.2:c.271_272del
  • NM_001352517.1:c.271_272del
  • NM_001352518.2:c.271_272del
  • NP_000402.3:p.Arg91fs
  • NP_001229713.1:p.Arg91fs
  • NP_001229714.1:p.Arg91fs
  • NP_001339443.1:p.Arg238fs
  • NP_001339444.1:p.Arg91fs
  • NP_001339445.1:p.Arg91fs
  • NP_001339446.1:p.Arg91fs
  • NP_001339447.1:p.Arg91fs
  • NC_000021.8:g.38309473_38309474del
  • NM_000411.6:c.271_272delAG
  • NR_148020.2:n.571_572del
  • NR_148021.1:n.728_729del
Protein change:
R238fs
Links:
dbSNP: rs1284747916
NCBI 1000 Genomes Browser:
rs1284747916
Molecular consequence:
  • NM_000411.8:c.271_272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001242784.3:c.271_272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001242785.2:c.271_272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352514.2:c.712_713del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352515.2:c.271_272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352516.2:c.271_272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352517.1:c.271_272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352518.2:c.271_272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_148020.2:n.571_572del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148021.1:n.728_729del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000797621Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Feb 2, 2018) 		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 Counsyl, SCV000797621.1

#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: Apr 23, 2022