NM_016156.6(MTMR2):c.553C>T (p.Pro185Ser) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 18, 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:: RCV004046895.1

Allele description [Variation Report for NM_016156.6(MTMR2):c.553C>T (p.Pro185Ser)]

NM_016156.6(MTMR2):c.553C>T (p.Pro185Ser)

Gene:

MTMR2:myotubularin related protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q21

Genomic location:

Preferred name:

NM_016156.6(MTMR2):c.553C>T (p.Pro185Ser)

HGVS:

NC_000011.10:g.95858548G>A
NG_008333.1:g.70660C>T
NM_001243571.2:c.337C>T
NM_016156.5:c.553C>T
NM_016156.6:c.553C>TMANE SELECT
NM_201278.3:c.337C>T
NM_201281.3:c.337C>T
NP_001230500.1:p.Pro113Ser
NP_057240.3:p.Pro185Ser
NP_958435.1:p.Pro113Ser
NP_958438.1:p.Pro113Ser
LRG_257t1:c.553C>T
LRG_257:g.70660C>T
NC_000011.9:g.95591712G>A

Protein change:

P113S

Links:

dbSNP: rs577896427

NCBI 1000 Genomes Browser:

rs577896427

Molecular consequence:

NM_001243571.2:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_016156.6:c.553C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201278.3:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201281.3:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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cysteine proteinase inhibitor A [Cucumis sativus]
cysteine proteinase inhibitor A [Cucumis sativus]
gi|449452723|ref|XP_004144108.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005009786	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005009786

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 18, 2023)

germline

clinical testing

Citation Link

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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 Ambry Genetics, SCV005009786.1

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

Description

The c.553C>T (p.P185S) alteration is located in exon 6 (coding exon 6) of the MTMR2 gene. This alteration results from a C to T substitution at nucleotide position 553, causing the proline (P) at amino acid position 185 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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