NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 24, 2014
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:
RCV002311625.9

Allele description [Variation Report for NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)]

NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)

Gene:
RPS6KA3:ribosomal protein S6 kinase A3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)
HGVS:
  • NC_000023.11:g.20186343G>T
  • NG_007488.1:g.85290C>A
  • NM_004586.3:c.798C>AMANE SELECT
  • NP_004577.1:p.Leu266=
  • NC_000023.10:g.20204461G>T
  • NM_004586.2:c.798C>A
  • NP_004577.1:p.(=)
Links:
dbSNP: rs2230488
NCBI 1000 Genomes Browser:
rs2230488
Molecular consequence:
  • NM_004586.3:c.798C>A - 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
SCV000846053Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Nov 24, 2014) 		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, SCV000846053.5

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

Description

This alteration is classified as 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: Nov 24, 2024