NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 20, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000724623.1

Allele description [Variation Report for NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)]

NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)

Gene:
HMGCL:3-hydroxy-3-methylglutaryl-CoA lyase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
HGVS:
  • NC_000001.11:g.23802527_23802528del
  • NG_007068.1:g.3278_3279del
  • NG_013061.1:g.27933_27934del
  • NM_000191.3:c.914_915delMANE SELECT
  • NM_001166059.1:c.701_702del
  • NP_000182.2:p.Phe305fs
  • NP_001159531.1:p.Phe234fs
  • NC_000001.10:g.24129017_24129018del
  • NM_000191.2:c.914_915delTT
Protein change:
F234fs
Links:
OMIM: 613898.0006; dbSNP: rs786205431
NCBI 1000 Genomes Browser:
rs786205431
Molecular consequence:
  • NM_000191.3:c.914_915del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001166059.1:c.701_702del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000232919EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Feb 20, 2015)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

Mitchell GA, Ozand PT, Robert MF, Ashmarina L, Roberts J, Gibson KM, Wanders RJ, Wang S, Chevalier I, Plöchl E, Miziorko H.

Am J Hum Genet. 1998 Feb;62(2):295-300.

PubMed [citation]
PMID:
9463337
PMCID:
PMC1376904

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232919.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 14, 2021

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