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NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) AND MKKS-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 5, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004536080.2

Allele description [Variation Report for NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)]

NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)

Gene:
MKKS:MKKS centrosomal shuttling protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p12.2
Genomic location:
Preferred name:
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)
HGVS:
  • NC_000020.11:g.10413394C>G
  • NG_009109.2:g.25825G>C
  • NM_018848.3:c.121G>C
  • NM_170784.3:c.121G>CMANE SELECT
  • NP_061336.1:p.Gly41Arg
  • NP_740754.1:p.Gly41Arg
  • NC_000020.10:g.10394042C>G
  • NG_009109.1:g.25825G>C
Protein change:
G41R
Links:
dbSNP: rs766132697
NCBI 1000 Genomes Browser:
rs766132697
Molecular consequence:
  • NM_018848.3:c.121G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170784.3:c.121G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MKKS-related disorder
Synonyms:
MKKS-Related Disorders; MKKS-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004118184PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 5, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004118184.2

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

Description

The MKKS c.121G>C variant is predicted to result in the amino acid substitution p.Gly41Arg. This missense variant was reported in the homozygous state in an individual diagnosed with Bardet-Biedl syndrome; however, no family or functional data was presented to support the pathogenicity of this variant (Billingsley et al 2010. PubMed ID 20472660). At PreventionGenetics, we have detected this variant in the homozygous state in three individual with BBS and in the heterozygous state in an individual with BBS who also had a gene deletion in MKKS. This variant is reported in 0.0085% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Taken together, we interpret this variant as pathogenic.

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

Last Updated: May 31, 2025