NM_001360016.2(G6PD):c.1311= (p.Tyr437=) AND Glucose 6 phosphate dehydrogenase deficiency

Clinical significance:Likely benign (Last evaluated: Mar 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000011084.9

Allele description [Variation Report for NM_001360016.2(G6PD):c.1311= (p.Tyr437=)]

NM_001360016.2(G6PD):c.1311= (p.Tyr437=)

Gene:
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001360016.2(G6PD):c.1311= (p.Tyr437=)
Other names:
G6PD, NT1311, C-T
HGVS:
  • NC_000023.11:g.154532439=
  • NG_009015.2:g.20134=
  • NM_000402.4:c.1401=
  • NM_001042351.3:c.1311=
  • NM_001360016.2:c.1311=MANE SELECT
  • NP_000393.4:p.Tyr467=
  • NP_001035810.1:p.Tyr437=
  • NP_001346945.1:p.Tyr437=
  • NC_000023.10:g.153760654G>A
  • NM_000402.3:c.1401C>T
  • NM_001042351.1:c.1311C>T
  • NM_001042351.2:c.1311T=
  • NP_001035810.1:p.(=)
  • NP_001035810.1:p.(=)
  • p.Tyr467Tyr
Links:
OMIM: 305900.0018; dbSNP: rs2230037
NCBI 1000 Genomes Browser:
rs2230037
Molecular consequence:
  • NM_000402.4:c.1401= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001042351.3:c.1311= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_001360016.2:c.1311= - no sequence alteration - [Sequence Ontology: SO:0002073]

Condition(s)

Name:
Glucose 6 phosphate dehydrogenase deficiency
Synonyms:
G6PD A-
Identifiers:
MONDO: MONDO:0005775; MedGen: C2939465

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031311OMIMno assertion criteria providedPathogenic
(Feb 1, 1969)
germlineliterature only

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

SCV000482068Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Mar 6, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A new structural variant of glucose-6-phosphate dehydrogenase with a high production rate (G6PD Hektoen).

Dern RJ, McCurdy PR, Yoshida A.

J Lab Clin Med. 1969 Feb;73(2):283-90. No abstract available.

PubMed [citation]
PMID:
4974311

Details of each submission

From OMIM, SCV000031311.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

De Vita et al. (1989) found a silent C-to-T change at nucleotide 1311 (in exon 11).

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

From Illumina Clinical Services Laboratory,Illumina, SCV000482068.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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

Last Updated: Nov 27, 2021

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