NM_212552.3(BOLA3):c.220_222del (p.Glu74del) AND Multiple mitochondrial dysfunctions syndrome 2

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Apr 26, 2023
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:: RCV001007956.4

Allele description [Variation Report for NM_212552.3(BOLA3):c.220_222del (p.Glu74del)]

NM_212552.3(BOLA3):c.220_222del (p.Glu74del)

Gene:

BOLA3:bolA family member 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p13.1

Genomic location:

Preferred name:

NM_212552.3(BOLA3):c.220_222del (p.Glu74del)

HGVS:

NC_000002.12:g.74142310_74142312del
NG_031910.1:g.10603_10605del
NM_001035505.2:c.169+2879_169+2881del
NM_212552.3:c.220_222delMANE SELECT
NP_997717.2:p.Glu74del
NC_000002.11:g.74369437_74369439del

Protein change:

E74del

Links:

OMIM: 613183.0004; dbSNP: rs1209052568

NCBI 1000 Genomes Browser:

rs1209052568

Molecular consequence:

NM_212552.3:c.220_222del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001035505.2:c.169+2879_169+2881del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Multiple mitochondrial dysfunctions syndrome 2 (MMDS2)
Synonyms:: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
Identifiers:: MONDO: MONDO:0013675; MedGen: C3280378; Orphanet: 401874; OMIM: 614299

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001167670	OMIM	no assertion criteria provided	Pathogenic (Apr 26, 2023)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001760096	Genomics England Pilot Project, Genomics England	no assertion criteria provided (ACGS Guidelines, 2016)	Likely pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001167670

OMIM

no assertion criteria provided

Pathogenic
(Apr 26, 2023)

germline

literature only

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

SCV001760096

Genomics England Pilot Project, Genomics England

no assertion criteria provided

(ACGS Guidelines, 2016)

Likely pathogenic

germline

clinical testing

Citation Link

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy.

Nikam RM, Gripp KW, Choudhary AK, Kandula V.

Am J Med Genet A. 2018 Dec;176(12):2787-2790. doi: 10.1002/ajmg.a.40490. Epub 2018 Oct 10.

PubMed [citation]

PMID:: 30302924

Details of each submission

From OMIM, SCV001167670.2

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

Description

For discussion of the 3-bp deletion (c.222_221del) in the BOLA3 gene that was found in compound heterozygous state in 2 sibs with multiple mitochondrial dysfunctions syndrome-2 with hyperglycinemia (MMDS2; 614299) by Nikam et al. (2018), see 613183.0003.

#	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

From Genomics England Pilot Project, Genomics England, SCV001760096.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: May 6, 2023

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