NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter) AND MN1 C-terminal truncation (MCTT) syndrome

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001258019.1

Allele description [Variation Report for NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter)]

NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter)

Gene:

MN1:MN1 proto-oncogene, transcriptional regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter)

HGVS:

NC_000022.11:g.27796799C>A
NG_023258.1:g.9700G>T
NM_002430.3:c.3745G>TMANE SELECT
NP_002421.3:p.Glu1249Ter
NC_000022.10:g.28192787C>A
NM_002430.2:c.3745G>T

Protein change:

E1249*; GLU1249TER

Links:

OMIM: 156100.0001; dbSNP: rs761317200

NCBI 1000 Genomes Browser:

rs761317200

Molecular consequence:

NM_002430.3:c.3745G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: MN1 C-terminal truncation (MCTT) syndrome
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001434833	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001434833

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

unknown

research

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, et al.

Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379. Erratum in: Brain. 2020 Mar 1;143(3):e24. doi: 10.1093/brain/awaa007.

PubMed [citation]

PMID:: 31834374
PMCID:: PMC7962909

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001434833.1

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

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

Last Updated: Jan 7, 2023

ClinVar

Relating variation to medicine