NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001815167.20

Allele description [Variation Report for NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)]

NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)

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.1039G>A (p.Glu347Lys)

Other names:

G6PD, GLU317LYS; G6PD Jamnaga; G6PD Kalyan; G6PD Kerala; G6PD Kerala-Kalyan; G6PD Rohini; p.Glu317Lys

HGVS:

NC_000023.11:g.154533044C>T
NG_009015.2:g.19529G>A
NM_000402.4:c.1039G>A
NM_001042351.3:c.949G>A
NM_001360016.2:c.949G>AMANE SELECT
NP_000393.4:p.Glu347Lys
NP_001035810.1:p.Glu317Lys
NP_001346945.1:p.Glu317Lys
NC_000023.10:g.153761259C>T
NM_000402.3:c.1039G>A
NM_001042351.1:c.949G>A
NM_001042351.2:c.949G>A
NM_001042351.3:c.949G>A
NM_001360016.2:c.949G>A

Protein change:

E317K; GLU317LYS

Links:

OMIM: 305900.0042; dbSNP: rs137852339

NCBI 1000 Genomes Browser:

rs137852339

Molecular consequence:

NM_000402.4:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042351.3:c.949G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001360016.2:c.949G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Gene ID:338056

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338056[uid] AND (alive[prop]) (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002063372	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (May 1, 2024)	germline	clinical testing	Citation Link,
SCV005046498	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 30, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002063372

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(May 1, 2024)

germline

clinical testing

Citation Link,

SCV005046498

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 30, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002063372.17

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

Description

G6PD: PS3, PS4, PP1:Moderate

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV005046498.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jul 15, 2024

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