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NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 20, 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:
RCV001196615.1

Allele description

NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)

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.1466G>C (p.Arg489Pro)
Other names:
G6PD, ARG459PRO
HGVS:
  • NC_000023.11:g.154532269C>G
  • NG_009015.2:g.20304G>C
  • NM_000402.4:c.1466G>C
  • NM_001042351.3:c.1376G>C
  • NM_001360016.2:c.1376G>CMANE SELECT
  • NP_000393.4:p.Arg489Pro
  • NP_001035810.1:p.Arg459Pro
  • NP_001346945.1:p.Arg459Pro
  • NC_000023.10:g.153760484C>G
  • NM_001042351.1:c.1376G>C
  • NM_001042351.2:c.1376G>C
Protein change:
R459P; ARG459PRO
Links:
OMIM: 305900.0059; dbSNP: rs72554665
NCBI 1000 Genomes Browser:
rs72554665
Molecular consequence:
  • NM_000402.4:c.1466G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042351.3:c.1376G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360016.2:c.1376G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myopathy
Synonyms:
Myopathic changes
Identifiers:
MONDO: MONDO:0005336; MedGen: C0026848; Human Phenotype Ontology: HP:0003198
Name:
Meningioma
Synonyms:
Meningioma, somatic; Meligioma; Mengioma; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0016642; MedGen: C0025286; Human Phenotype Ontology: HP:0002858
Name:
Cataract (disease)
Synonyms:
Cataract; Cataracts; Lens opacities; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0005129; MeSH: D002386; MedGen: C0086543; OMIM: PS116200; Human Phenotype Ontology: HP:0000518
Name:
Osteoporosis
Identifiers:
MedGen: C2911643; Human Phenotype Ontology: HP:0000939
Name:
Hypertensive disorder
Synonyms:
Hypertension; Elevated blood pressure; Increased blood pressure; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0005044; MedGen: C0020538; Human Phenotype Ontology: HP:0000822

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001367223Centre for Mendelian Genomics,University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG guidelines, Richards 2015)		Pathogenic
(Aug 20, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]
PMID:
30311386
PMCID:
PMC6188673

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001367223.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. This variant was detected in heterozygous state.

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

Last Updated: Nov 6, 2020