NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) AND Deficiency of cytochrome-b5 reductase

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Nov 29, 2022
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:: RCV002490285.5

Allele description [Variation Report for NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)]

NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)

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.719A>G (p.Asp240Gly)

HGVS:

NC_000022.11:g.42623803T>C
NG_012194.1:g.30597A>G
NM_000398.7:c.719A>GMANE SELECT
NM_001129819.2:c.650A>G
NM_001171660.2:c.818A>G
NM_001171661.1:c.650A>G
NM_007326.4:c.650A>G
NP_000389.1:p.Asp240Gly
NP_001123291.1:p.Asp217Gly
NP_001165131.1:p.Asp273Gly
NP_001165132.1:p.Asp217Gly
NP_015565.1:p.Asp217Gly
NC_000022.10:g.43019809T>C

Protein change:

D217G; ASP240GLY

Links:

OMIM: 613213.0019; dbSNP: rs121965018

NCBI 1000 Genomes Browser:

rs121965018

Molecular consequence:

NM_000398.7:c.719A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001129819.2:c.650A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171660.2:c.818A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171661.1:c.650A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007326.4:c.650A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Deficiency of cytochrome-b5 reductase
Synonyms:: METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE; NADH cytochrome B5 reductase deficiency; Diaphorase deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009606; MedGen: C0268193; Orphanet: 621; OMIM: 250800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002795497	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 13, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003830365	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 29, 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

SCV002795497

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 13, 2022)

unknown

clinical testing

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

SCV003830365

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 29, 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	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	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 Fulgent Genetics, Fulgent Genetics, SCV002795497.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003830365.2

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

Last Updated: Mar 16, 2024

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