NM_000398.7(CYB5R3):c.350C>G (p.Thr117Ser) AND NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM

Germline classification:: Benign (1 submission)
Last evaluated:: May 1, 2008
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000000268.10

Allele description [Variation Report for NM_000398.7(CYB5R3):c.350C>G (p.Thr117Ser)]

NM_000398.7(CYB5R3):c.350C>G (p.Thr117Ser)

Gene:

CYB5R3:cytochrome b5 reductase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.2

Genomic location:

Preferred name:

NM_000398.7(CYB5R3):c.350C>G (p.Thr117Ser)

HGVS:

NC_000022.11:g.42628265G>C
NG_012194.1:g.26135C>G
NM_000398.7:c.350C>GMANE SELECT
NM_001129819.2:c.281C>G
NM_001171660.2:c.449C>G
NM_001171661.1:c.281C>G
NM_007326.4:c.281C>G
NP_000389.1:p.Thr117Ser
NP_001123291.1:p.Thr94Ser
NP_001165131.1:p.Thr150Ser
NP_001165132.1:p.Thr94Ser
NP_015565.1:p.Thr94Ser
NC_000022.10:g.43024271G>C
NM_000398.6:c.350C>G
P00387:p.Thr117Ser

Protein change:

T117S; THR117SER

Links:

UniProtKB: P00387#VAR_010751; OMIM: 613213.0011; dbSNP: rs1800457

NCBI 1000 Genomes Browser:

rs1800457

Molecular consequence:

NM_000398.7:c.350C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001129819.2:c.281C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171660.2:c.449C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171661.1:c.281C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007326.4:c.281C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020412	OMIM	no assertion criteria provided	Benign (May 1, 2008)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 18318771, 9048929

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020412

OMIM

no assertion criteria provided

Benign
(May 1, 2008)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.

Percy MJ, Lappin TR.

Br J Haematol. 2008 May;141(3):298-308. doi: 10.1111/j.1365-2141.2008.07017.x. Epub 2008 Mar 3. Review.

PubMed [citation]

PMID:: 18318771

A high-frequency polymorphism of NADH-cytochrome b5 reductase in African-Americans.

Jenkins MM, Prchal JT.

Hum Genet. 1997 Feb;99(2):248-50.

PubMed [citation]

PMID:: 9048929

Details of each submission

From OMIM, SCV000020412.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

This variant, originally reported as THR116SER, has been designated THR117SER based on revised numbering (Percy and Lappin, 2008).

Jenkins and Prchal (1997) claimed to have demonstrated the first polymorphism in the CYB5R3 gene: a C-to-G transversion in exon 5, resulting in a thr117-to-ser (T117S) substitution. The polymorphism was found only in African Americans among whom 26 of 112 chromosomes showed the G form, giving an allele frequency of 0.23. It was not found in 108 Caucasian, 46 Asian, 44 Indo-Aryan, or 14 Arabic chromosomes. Preliminary studies indicated that the polymorphism did not correlate with enzyme activity or produce any disease phenotype. It remained to be determined whether this African-specific polymorphism that apparently originated recently in human evolution provides any special survival advantage.

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

Last Updated: Oct 8, 2024

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