NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 25, 2022
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:: RCV004020580.1

Allele description [Variation Report for NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)]

NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)

Gene:

RMND1:required for meiotic nuclear division 1 homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.1

Genomic location:

Preferred name:

NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)

Other names:

RMND1, ASN238SER (rs144972972)

HGVS:

NC_000006.12:g.151430154T>C
NG_033031.1:g.27028A>G
NM_001271937.2:c.203A>G
NM_017909.4:c.713A>GMANE SELECT
NP_001258866.1:p.Asn68Ser
NP_060379.2:p.Asn238Ser
NC_000006.11:g.151751289T>C
NM_017909.2:c.713A>G
NM_017909.3:c.713A>G
p.Asn238Ser

Protein change:

N238S; ASN238SER

Links:

OMIM: 614917.0004; dbSNP: rs144972972

NCBI 1000 Genomes Browser:

rs144972972

Molecular consequence:

NM_001271937.2:c.203A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_017909.4:c.713A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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hypothetical protein, partial [Pseudoalteromonas sp. APC 3694]
hypothetical protein, partial [Pseudoalteromonas sp. APC 3694]
gi|2532725726|ref|WP_290156841.1|

Protein
janus kinase and microtubule-interacting protein 3 isoform e [Homo sapiens]
janus kinase and microtubule-interacting protein 3 isoform e [Homo sapiens]
gi|1972711888|ref|NP_001378975.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005015054	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 25, 2022)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 25058219, 25604853, 26395190, 27159321, 27350610, 27412952, 27843092, 28939701, 29671881, 31506229, 31568715 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005015054

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 25, 2022)

germline

clinical testing

PubMed (11)
[See all records that cite these PMIDs]

Citation Link

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

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, et al.

JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.

PubMed [citation]

PMID:: 25058219
PMCID:: PMC6558267

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

Janer A, van Karnebeek CD, Sasarman F, Antonicka H, Al Ghamdi M, Shyr C, Dunbar M, Stockler-Ispiroglu S, Ross CJ, Vallance H, Dionne J, Wasserman WW, Shoubridge EA.

Eur J Hum Genet. 2015 Oct;23(10):1301-7. doi: 10.1038/ejhg.2014.293. Epub 2015 Jan 21.

PubMed [citation]

PMID:: 25604853
PMCID:: PMC4592087

See all PubMed Citations (11)

Details of each submission

From Ambry Genetics, SCV005015054.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

The c.713A>G (p.N238S) alteration is located in exon 5 (coding exon 4) of the RMND1 gene. This alteration results from an A to G substitution at nucleotide position 713, causing the asparagine (N) at amino acid position 238 to be replaced by a serine (S). Based on data from gnomAD, the G allele has an overall frequency of 0.02% (54/280666) total alleles studied. The highest observed frequency was 0.04% (47/128420) of European (non-Finnish) alleles. This alteration was detected in the homozygous state and in conjunction with another alteration in RMND1 in multiple individuals with RMND1-related combined oxidative phosphorylation deficiency (Taylor, 2014; Janer, 2015; Ng, 2016; Gupta, 2016; Vanderver, 2016; Ravn, 2016; van Dieman, 2017; Ulrick, 2017; Demain, 2018; Shayoto, 2019; Broenen, 2019). Experimental studies show that this alteration leads to reduced RMND1 activity in patient-derived cells (Janer, 2015). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, this alteration is 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

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