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NM_001352514.2(HLCS):c.1105A>G (p.Arg369Gly) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 2023
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:
RCV003365264.2

Allele description [Variation Report for NM_001352514.2(HLCS):c.1105A>G (p.Arg369Gly)]

NM_001352514.2(HLCS):c.1105A>G (p.Arg369Gly)

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.1105A>G (p.Arg369Gly)
HGVS:
  • NC_000021.9:g.36936781T>C
  • NG_016193.2:g.58614A>G
  • NM_000411.8:c.664A>G
  • NM_001242784.3:c.664A>G
  • NM_001242785.2:c.664A>G
  • NM_001352514.2:c.1105A>GMANE SELECT
  • NM_001352515.2:c.664A>G
  • NM_001352516.2:c.664A>G
  • NM_001352517.1:c.664A>G
  • NM_001352518.2:c.664A>G
  • NP_000402.3:p.Arg222Gly
  • NP_001229713.1:p.Arg222Gly
  • NP_001229714.1:p.Arg222Gly
  • NP_001339443.1:p.Arg369Gly
  • NP_001339444.1:p.Arg222Gly
  • NP_001339445.1:p.Arg222Gly
  • NP_001339446.1:p.Arg222Gly
  • NP_001339447.1:p.Arg222Gly
  • NC_000021.8:g.38309081T>C
  • NM_000411.6:c.664A>G
  • NR_148020.2:n.964A>G
  • NR_148021.1:n.1121A>G
Protein change:
R222G
Molecular consequence:
  • NM_000411.8:c.664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242784.3:c.664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242785.2:c.664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352514.2:c.1105A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352515.2:c.664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352516.2:c.664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352517.1:c.664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352518.2:c.664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148020.2:n.964A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148021.1:n.1121A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004080086Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 2, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004080086.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.664A>G (p.R222G) alteration is located in exon 5 (coding exon 2) of the HLCS gene. This alteration results from a A to G substitution at nucleotide position 664, causing the arginine (R) at amino acid position 222 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024