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NM_023936.2(MRPS34):c.260G>C (p.Trp87Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 17, 2024
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:
RCV004641976.1

Allele description [Variation Report for NM_023936.2(MRPS34):c.260G>C (p.Trp87Ser)]

NM_023936.2(MRPS34):c.260G>C (p.Trp87Ser)

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.260G>C (p.Trp87Ser)
HGVS:
  • NC_000016.10:g.1772860C>G
  • NG_192604.1:g.212C>G
  • NM_001257370.2:c.-368C>GMANE SELECT
  • NM_001300900.2:c.260G>C
  • NM_023936.2:c.260G>CMANE SELECT
  • NP_001287829.1:p.Trp87Ser
  • NP_076425.1:p.Trp87Ser
  • NC_000016.9:g.1822861C>G
  • NM_023936.1:c.260G>C
Protein change:
W87S
Molecular consequence:
  • NM_001257370.2:c.-368C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001300900.2:c.260G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023936.2:c.260G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005134412Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 17, 2024) 		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, SCV005134412.1

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

Description

The c.260G>C (p.W87S) alteration is located in exon 1 (coding exon 1) of the MRPS34 gene. This alteration results from a G to C substitution at nucleotide position 260, causing the tryptophan (W) at amino acid position 87 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024