NM_002133.3(HMOX1):c.262_268delinsCC (p.Ala88fs) AND Heme oxygenase 1 deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 15, 2022
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:: RCV001787242.3

Allele description [Variation Report for NM_002133.3(HMOX1):c.262_268delinsCC (p.Ala88fs)]

NM_002133.3(HMOX1):c.262_268delinsCC (p.Ala88fs)

Gene:

HMOX1:heme oxygenase 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

22q12.3

Genomic location:

Preferred name:

NM_002133.3(HMOX1):c.262_268delinsCC (p.Ala88fs)

HGVS:

NC_000022.11:g.35386802_35386808delinsCC
NG_023030.1:g.10736_10742delinsCC
NM_002133.3:c.262_268delinsCCMANE SELECT
NP_002124.1:p.Ala88fs
NC_000022.10:g.35782795_35782801delinsCC
NM_002133.2:c.262_268delinsCC
c.262_268delinsCC

Protein change:

A88fs

Links:

OMIM: 141250.0007; dbSNP: rs2145766893

NCBI 1000 Genomes Browser:

rs2145766893

Molecular consequence:

NM_002133.3:c.262_268delinsCC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Heme oxygenase 1 deficiency (HMOX1D)
Identifiers:: MONDO: MONDO:0013536; MedGen: C1841651; OMIM: 614034

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002029065	OMIM	no assertion criteria provided	Pathogenic (Mar 15, 2022)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002029065

OMIM

no assertion criteria provided

Pathogenic
(Mar 15, 2022)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.

Chau AS, Cole BL, Debley JS, Nanda K, Rosen ABI, Bamshad MJ, Nickerson DA, Torgerson TR, Allenspach EJ.

Pediatr Rheumatol Online J. 2020 Oct 16;18(1):80. doi: 10.1186/s12969-020-00474-1. Erratum in: Pediatr Rheumatol Online J. 2022 Mar 14;20(1):19.

PubMed [citation]

PMID:: 33066778
PMCID:: PMC7565350

Details of each submission

From OMIM, SCV002029065.2

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

Description

In a boy with heme oxygenase-1 deficiency (HMOX1D; 614034), Chau et al. (2020) identified compound heterozygous mutations in the HMOX1 gene: an insertion/deletion mutation (c.262_268delinsCC, NM_002133.2), resulting in a frameshift and premature termination (Ala88ProfsTer51), and a c.636+2T-A donor splice site mutation (141250.0008). The mutations were identified by whole-exome sequencing, and the parents were shown to be mutation carriers. HMOX1 deficiency was confirmed in patient PBMCs by Western blot analysis, which showed absence of protein expression after treatment with cobalt protoporphyrin, an inducer of HMOX1.

#	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: Apr 15, 2024

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