NM_000398.7(CYB5R3):c.706del (p.Trp236fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 8, 2021
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:: RCV001949405.4

Allele description [Variation Report for NM_000398.7(CYB5R3):c.706del (p.Trp236fs)]

NM_000398.7(CYB5R3):c.706del (p.Trp236fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

22q13.2

Genomic location:

Preferred name:

NM_000398.7(CYB5R3):c.706del (p.Trp236fs)

HGVS:

NC_000022.11:g.42623816del
NG_012194.1:g.30584del
NM_000398.7:c.706delMANE SELECT
NM_001129819.2:c.637del
NM_001171660.2:c.805del
NM_001171661.1:c.637del
NM_007326.4:c.637del
NP_000389.1:p.Trp236fs
NP_001123291.1:p.Trp213fs
NP_001165131.1:p.Trp269fs
NP_001165132.1:p.Trp213fs
NP_015565.1:p.Trp213fs
NC_000022.10:g.43019822del

Protein change:

W213fs

Links:

dbSNP: rs1928115765

NCBI 1000 Genomes Browser:

rs1928115765

Molecular consequence:

NM_000398.7:c.706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001129819.2:c.637del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001171660.2:c.805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001171661.1:c.637del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007326.4:c.637del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

platelet-activating factor acetylhydrolase IB subunit alpha [Otolemur garnettii]
platelet-activating factor acetylhydrolase IB subunit alpha [Otolemur garnettii]
gi|395853239|ref|XP_003799123.1|

Protein
PREDICTED: platelet-activating factor acetylhydrolase IB subunit alpha [Capra hi...
PREDICTED: platelet-activating factor acetylhydrolase IB subunit alpha [Capra hircus]
gi|548507498|ref|XP_005693383.1|

Protein
platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa [Hom...
platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa [Homo sapiens]
gi|119610942|gb|EAW90536.1||gnl|WGS |hCP46320

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002243175	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 8, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11159544, 16310381, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002243175

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 8, 2021)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I.

Dekker J, Eppink MH, van Zwieten R, de Rijk T, Remacha AF, Law LK, Li AM, Cheung KL, van Berkel WJ, Roos D.

Blood. 2001 Feb 15;97(4):1106-14.

PubMed [citation]

PMID:: 11159544

Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant.

Percy MJ, Crowley LJ, Roper D, Vulliamy TJ, Layton DM, Barber MJ.

Blood Cells Mol Dis. 2006 Jan-Feb;36(1):81-90. Epub 2005 Nov 28.

PubMed [citation]

PMID:: 16310381

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002243175.3

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

Description

This sequence change creates a premature translational stop signal (p.Trp236Glyfs*18) in the CYB5R3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acid(s) of the CYB5R3 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CYB5R3-related conditions. This variant disrupts a region of the CYB5R3 protein in which other variant(s) (p.Val253Met) have been determined to be pathogenic (PMID: 11159544, 16310381). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine