NM_007289.4(MME):c.1095-2A>C AND Spinocerebellar ataxia 43

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 22, 2021
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:: RCV001849202.2

Allele description [Variation Report for NM_007289.4(MME):c.1095-2A>C]

NM_007289.4(MME):c.1095-2A>C

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.1095-2A>C

HGVS:

NC_000003.12:g.155142235A>C
NG_051105.1:g.123112A>C
NM_000902.5:c.1095-2A>C
NM_001354642.2:c.1095-2A>C
NM_001354643.1:c.1095-2A>C
NM_007287.4:c.1095-2A>C
NM_007288.3:c.1095-2A>C
NM_007289.4:c.1095-2A>CMANE SELECT
NC_000003.11:g.154860024A>C
NM_000902.3:c.1095-2A>C

Links:

dbSNP: rs2108312675

NCBI 1000 Genomes Browser:

rs2108312675

Molecular consequence:

NM_000902.5:c.1095-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354642.2:c.1095-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354643.1:c.1095-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007287.4:c.1095-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007288.3:c.1095-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007289.4:c.1095-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Spinocerebellar ataxia 43 (SCA43)
Identifiers:: MONDO: MONDO:0014867; MedGen: C4310763; OMIM: 617018

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001960839	O&I group, Department of Genetics, University Medical Center of Groningen	no assertion criteria provided	Likely pathogenic (Jul 22, 2021)	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001960839

O&I group, Department of Genetics, University Medical Center of Groningen

no assertion criteria provided

Likely pathogenic
(Jul 22, 2021)

de novo

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From O&I group, Department of Genetics, University Medical Center of Groningen, SCV001960839.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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