NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 26, 2023
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:: RCV004588161.1

Allele description [Variation Report for NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)]

NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)

Gene:

MYT1L:myelin transcription factor 1 like [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p25.3

Genomic location:

Preferred name:

NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)

HGVS:

NC_000002.12:g.1892092_1892101del
NG_051313.1:g.444290_444299del
NM_001303052.2:c.2221_2230delMANE SELECT
NM_001329844.2:c.2221_2230del
NM_001329845.1:c.2221_2230del
NM_001329846.3:c.2215_2224del
NM_001329847.2:c.2215_2224del
NM_001329848.1:c.2215_2224del
NM_001329849.3:c.2215_2224del
NM_001329851.3:c.2221_2230del
NM_001329852.3:c.2215_2224del
NM_015025.4:c.2215_2224del
NP_001289981.1:p.Thr741fs
NP_001316773.1:p.Thr741fs
NP_001316774.1:p.Thr741fs
NP_001316775.1:p.Thr739fs
NP_001316776.1:p.Thr739fs
NP_001316777.1:p.Thr739fs
NP_001316778.1:p.Thr739fs
NP_001316780.1:p.Thr741fs
NP_001316781.1:p.Thr739fs
NP_055840.2:p.Thr739fs
NC_000002.11:g.1895864_1895873del
NM_001303052.1:c.2221_2230del
NM_001303052.1:c.2221_2230delACGCGCTGCC
NM_015025.2:c.2215_2224del
NM_015025.3:c.2215_2224del

Protein change:

T739fs

Links:

OMIM: 613084.0004; dbSNP: rs1253072668

NCBI 1000 Genomes Browser:

rs1253072668

Molecular consequence:

NM_001303052.2:c.2221_2230del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329844.2:c.2221_2230del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329845.1:c.2221_2230del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329846.3:c.2215_2224del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329847.2:c.2215_2224del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329848.1:c.2215_2224del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329849.3:c.2215_2224del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329851.3:c.2221_2230del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001329852.3:c.2215_2224del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015025.4:c.2215_2224del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005080765	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005080765

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Sep 26, 2023)

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

Details of each submission

From GeneDx, SCV005080765.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30055078)

#	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: Jul 23, 2024

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