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NM_016156.6(MTMR2):c.522C>T (p.Ser174=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 11, 2019
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:
RCV002333999.9

Allele description [Variation Report for NM_016156.6(MTMR2):c.522C>T (p.Ser174=)]

NM_016156.6(MTMR2):c.522C>T (p.Ser174=)

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.522C>T (p.Ser174=)
HGVS:
  • NC_000011.10:g.95858579G>A
  • NG_008333.1:g.70629C>T
  • NM_001243571.2:c.306C>T
  • NM_016156.6:c.522C>TMANE SELECT
  • NM_201278.3:c.306C>T
  • NM_201281.3:c.306C>T
  • NP_001230500.1:p.Ser102=
  • NP_057240.3:p.Ser174=
  • NP_057240.3:p.Ser174=
  • NP_958435.1:p.Ser102=
  • NP_958438.1:p.Ser102=
  • LRG_257t1:c.522C>T
  • LRG_257:g.70629C>T
  • LRG_257p1:p.Ser174=
  • NC_000011.9:g.95591743G>A
  • NM_016156.5:c.522C>T
Links:
dbSNP: rs146014892
NCBI 1000 Genomes Browser:
rs146014892
Molecular consequence:
  • NM_001243571.2:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016156.6:c.522C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_201278.3:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_201281.3:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002640853Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 11, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002640853.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024