NM_000252.3(MTM1):c.595_599del (p.Pro199fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 28, 2016
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:: RCV000293067.4

Allele description [Variation Report for NM_000252.3(MTM1):c.595_599del (p.Pro199fs)]

NM_000252.3(MTM1):c.595_599del (p.Pro199fs)

Gene:

MTM1:myotubularin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000252.3(MTM1):c.595_599del (p.Pro199fs)

HGVS:

NC_000023.11:g.150641335_150641339del
NG_008199.1:g.77762_77766del
NM_000252.3:c.595_599delMANE SELECT
NM_001376906.1:c.595_599del
NM_001376907.1:c.484_488del
NM_001376908.1:c.595_599del
NP_000243.1:p.Pro199fs
NP_001363835.1:p.Pro199fs
NP_001363836.1:p.Pro162fs
NP_001363837.1:p.Pro199fs
LRG_839:g.77762_77766del
NC_000023.10:g.149809808_149809812del
NM_000252.2:c.595_599delCCTGC

Protein change:

P162fs

Links:

dbSNP: rs398123273

NCBI 1000 Genomes Browser:

rs398123273

Molecular consequence:

NM_000252.3:c.595_599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376906.1:c.595_599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376907.1:c.484_488del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376908.1:c.595_599del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000331332	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Apr 28, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000331332

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Apr 28, 2016)

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	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000331332.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	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		2	not provided	not provided	not provided

Last Updated: Apr 1, 2023

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