NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 3, 2017
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:: RCV001265976.2

Allele description [Variation Report for NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)]

NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)

Gene:

MRPS23:mitochondrial ribosomal protein S23 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)

HGVS:

NC_000017.11:g.57849336G>A
NM_016070.4:c.119C>TMANE SELECT
NP_057154.2:p.Pro40Leu
NC_000017.10:g.55926697G>A
NM_016070.3:c.119C>T

Protein change:

P40L

Links:

dbSNP: rs772721937

NCBI 1000 Genomes Browser:

rs772721937

Molecular consequence:

NM_016070.4:c.119C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001444148	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Uncertain significance (Oct 3, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444148

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Uncertain significance
(Oct 3, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Asian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, et al.

PLoS Genet. 2016 Jan;12(1):e1005679. doi: 10.1371/journal.pgen.1005679.

PubMed [citation]

PMID:: 26741492
PMCID:: PMC4704781

Details of each submission

From Ambry Genetics, SCV001444148.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Oct 8, 2024

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