NM_007289.4(MME):c.1342C>T (p.Arg448Ter) AND MME-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 21, 2024
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:: RCV004751626.1

Allele description [Variation Report for NM_007289.4(MME):c.1342C>T (p.Arg448Ter)]

NM_007289.4(MME):c.1342C>T (p.Arg448Ter)

Gene:

MME:membrane metalloendopeptidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.2

Genomic location:

Preferred name:

NM_007289.4(MME):c.1342C>T (p.Arg448Ter)

HGVS:

NC_000003.12:g.155144383C>T
NG_051105.1:g.125260C>T
NM_000902.5:c.1342C>T
NM_001354642.2:c.1342C>T
NM_001354643.1:c.1342C>T
NM_007287.4:c.1342C>T
NM_007288.3:c.1342C>T
NM_007289.4:c.1342C>TMANE SELECT
NP_000893.2:p.Arg448Ter
NP_001341571.1:p.Arg448Ter
NP_001341572.1:p.Arg448Ter
NP_009218.2:p.Arg448Ter
NP_009219.2:p.Arg448Ter
NP_009220.2:p.Arg448Ter
NC_000003.11:g.154862172C>T
NM_000902.3:c.1342C>T
NM_007289.2:c.1342C>T
p.Arg448X

Protein change:

R448*

Links:

dbSNP: rs149905705

NCBI 1000 Genomes Browser:

rs149905705

Molecular consequence:

NM_000902.5:c.1342C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354642.2:c.1342C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354643.1:c.1342C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007287.4:c.1342C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007288.3:c.1342C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007289.4:c.1342C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: MME-related disorder
Synonyms:: MME-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005362341	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Sep 21, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005362341

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Sep 21, 2024)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005362341.1

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

Description

The MME c.1342C>T variant is predicted to result in premature protein termination (p.Arg448*). This variant was first reported in the compound heterozygous state in an individual with neutral endopeptidase deficiency who, in a retrospective study, developed Charcot-Marie-Tooth disease type 2 (CMT2, Debiec et al. 2004. PubMed ID: 15464186; Nortier et al. 2021. PubMed ID: 34307994). This variant has also been reported in the compound heterozygous or homozygous state in several unrelated individuals with CMT2 (Lupo et al. 2018. PubMed ID: 30415211), as well as autosomal recessive distal hereditary motor neuropathy (Hong et al. 2019. PubMed ID: 31429185). In addition, this variant has been reported in the heterozygous state in an individual with late-onset axonal neuropathies (individual US6/II-1 in Auer-Grumbach et al. 2016. PubMed ID: 27588448). In vitro functional studies using HEK293 cells demonstrated that expression of this variant results in significantly decreased mRNA levels and enzymatic activity (Hong et al. 2019. PubMed ID: 31429185). This variant is reported in 0.031% of alleles in individuals of Latino descent in gnomAD, and has been consistently interpreted as pathogenic by other laboratories in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/504903/). Nonsense variants in MME are expected to be pathogenic. This variant is interpreted 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: Oct 13, 2024

ClinVar

Relating variation to medicine