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NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jul 28, 2017
Review status:
criteria provided, conflicting classifications
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:
RCV000079389.23

Allele description [Variation Report for NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)]

NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)

Gene:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
Other names:
G6PD, LEU342PHE; G6PD Chinese-5; G6PD Mahidol-like
HGVS:
  • NC_000023.11:g.154532969G>A
  • NG_009015.2:g.19604C>T
  • NM_000402.4:c.1114C>T
  • NM_001042351.3:c.1024C>T
  • NM_001360016.2:c.1024C>TMANE SELECT
  • NP_000393.4:p.Leu372Phe
  • NP_001035810.1:p.Leu342Phe
  • NP_001035810.1:p.Leu342Phe
  • NP_001346945.1:p.Leu342Phe
  • NC_000023.10:g.153761184G>A
  • NM_001042351.1:c.1024C>T
  • NM_001042351.3:c.1024C>T
Protein change:
L342F; LEU342PHE
Links:
OMIM: 305900.0046; dbSNP: rs137852342
NCBI 1000 Genomes Browser:
rs137852342
Molecular consequence:
  • NM_000402.4:c.1114C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.1024C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.1024C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000111268Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Dec 17, 2012) 		germlineclinical testing

Citation Link,

SCV000885493ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Likely pathogenic
(Jul 28, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000111268.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885493.1

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

Last Updated: Nov 10, 2024