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NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 16, 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:
RCV001704761.1

Allele description [Variation Report for NM_001352514.2(HLCS):c.1617G>A (p.Ala539=)]

NM_001352514.2(HLCS):c.1617G>A (p.Ala539=)

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.1617G>A (p.Ala539=)
HGVS:
  • NC_000021.9:g.36930254C>T
  • NG_016193.2:g.65141G>A
  • NM_000411.8:c.1176G>A
  • NM_001242784.3:c.1176G>A
  • NM_001242785.2:c.1176G>A
  • NM_001352514.2:c.1617G>AMANE SELECT
  • NM_001352515.2:c.1176G>A
  • NM_001352516.2:c.1176G>A
  • NM_001352517.1:c.1176G>A
  • NM_001352518.2:c.1176G>A
  • NP_000402.3:p.Ala392=
  • NP_001229713.1:p.Ala392=
  • NP_001229714.1:p.Ala392=
  • NP_001339443.1:p.Ala539=
  • NP_001339444.1:p.Ala392=
  • NP_001339445.1:p.Ala392=
  • NP_001339446.1:p.Ala392=
  • NP_001339447.1:p.Ala392=
  • NC_000021.8:g.38302554C>T
  • NM_000411.6:c.1176G>A
  • NR_148020.2:n.1476G>A
  • NR_148021.1:n.1633G>A
Links:
dbSNP: rs111603166
NCBI 1000 Genomes Browser:
rs111603166
Molecular consequence:
  • NR_148020.2:n.1476G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148021.1:n.1633G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000411.8:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001242784.3:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001242785.2:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352514.2:c.1617G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352515.2:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352516.2:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352517.1:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352518.2:c.1176G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000728558GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Apr 16, 2019)
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, SCV000728558.1

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

Last Updated: Sep 29, 2024