NM_023936.2(MRPS34):c.280T>C (p.Tyr94His) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 25, 2021
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:: RCV001993975.4

Allele description [Variation Report for NM_023936.2(MRPS34):c.280T>C (p.Tyr94His)]

NM_023936.2(MRPS34):c.280T>C (p.Tyr94His)

Genes:

LOC130058183:ATAC-STARR-seq lymphoblastoid silent region 7002 [Gene]
EME2:essential meiotic structure-specific endonuclease subunit 2 [Gene - OMIM - HGNC]
MRPS34:mitochondrial ribosomal protein S34 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_023936.2(MRPS34):c.280T>C (p.Tyr94His)

HGVS:

NC_000016.10:g.1772840A>G
NG_192604.1:g.192A>G
NM_001257370.2:c.-388A>GMANE SELECT
NM_001300900.2:c.280T>C
NM_023936.2:c.280T>CMANE SELECT
NP_001287829.1:p.Tyr94His
NP_076425.1:p.Tyr94His
NC_000016.9:g.1822841A>G

Protein change:

Y94H

Links:

dbSNP: rs752478974

NCBI 1000 Genomes Browser:

rs752478974

Molecular consequence:

NM_001257370.2:c.-388A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001300900.2:c.280T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_023936.2:c.280T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens cDNA FLJ40445 fis, clone TESTI2040297
Homo sapiens cDNA FLJ40445 fis, clone TESTI2040297
gi|21757634|dbj|AK097764.1|

Nucleotide
BX362003 Homo sapiens T CELLS (JURKAT CELL LINE) COT 10-NORMALIZED Homo sapiens ...
BX362003 Homo sapiens T CELLS (JURKAT CELL LINE) COT 10-NORMALIZED Homo sapiens cDNA clone CS0DJ008YM03 5-PRIME, mRNA sequence
gi|46288677|gnl|dbEST|22365903|emb| 003.2|

Nucleotide
Lotus subbiflorus isolate ANG06 photosystem II protein D1 (psbA) gene, partial c...
Lotus subbiflorus isolate ANG06 photosystem II protein D1 (psbA) gene, partial cds; and tRNA-His (trnH) gene, partial sequence; chloroplast
gi|2710621615|gb|OR920575.1|

Nucleotide
Lotus praetermissus isolate TH5 photosystem II protein D1 (psbA) gene, partial c...
Lotus praetermissus isolate TH5 photosystem II protein D1 (psbA) gene, partial cds; and tRNA-His (trnH) gene, partial sequence; chloroplast
gi|2710621601|gb|OR920568.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002257732	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 25, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002257732

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 25, 2021)

germline

clinical testing

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

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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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002257732.3

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

Description

This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 94 of the MRPS34 protein (p.Tyr94His). This variant is present in population databases (rs752478974, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MRPS34-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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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