NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) AND not provided

Clinical significance:Likely benign (Last evaluated: Jun 20, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)]

NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)

HLCS:holocarboxylase synthetase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
  • NC_000021.9:g.36897057G>A
  • NG_016193.2:g.98338C>T
  • NM_000411.8:c.1254C>T
  • NM_001242784.3:c.1254C>T
  • NM_001242785.2:c.1254C>T
  • NM_001352514.2:c.1695C>TMANE SELECT
  • NM_001352515.2:c.1254C>T
  • NM_001352516.2:c.1254C>T
  • NM_001352517.1:c.1254C>T
  • NM_001352518.2:c.1254C>T
  • NP_000402.3:p.Leu418=
  • NP_001229713.1:p.Leu418=
  • NP_001229714.1:p.Leu418=
  • NP_001339443.1:p.Leu565=
  • NP_001339444.1:p.Leu418=
  • NP_001339445.1:p.Leu418=
  • NP_001339446.1:p.Leu418=
  • NP_001339447.1:p.Leu418=
  • NC_000021.8:g.38269357G>A
  • NM_000411.6:c.1254C>T
  • NR_148020.2:n.1554C>T
  • NR_148021.1:n.1711C>T
dbSNP: rs138209330
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NR_148020.2:n.1554C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148021.1:n.1711C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000411.8:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001242784.3:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001242785.2:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352514.2:c.1695C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352515.2:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352516.2:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352517.1:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352518.2:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000732664GeneDxcriteria provided, single submitter
Likely benign
(Jun 20, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000732664.2

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

Last Updated: Nov 27, 2021

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