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NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) AND MKKS-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 22, 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:
RCV004532293.2

Allele description [Variation Report for NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)]

NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)

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.830T>C (p.Leu277Pro)
HGVS:
  • NC_000020.11:g.10412685A>G
  • NG_009109.2:g.26534T>C
  • NM_018848.3:c.830T>C
  • NM_170784.3:c.830T>CMANE SELECT
  • NP_061336.1:p.Leu277Pro
  • NP_740754.1:p.Leu277Pro
  • NC_000020.10:g.10393333A>G
  • NM_018848.2:c.830T>C
  • NM_170784.3:c.830T>C
  • Q9NPJ1:p.Leu277Pro
Protein change:
L277P; LEU277PRO
Links:
UniProtKB: Q9NPJ1#VAR_009884; OMIM: 604896.0008; dbSNP: rs74315398
NCBI 1000 Genomes Browser:
rs74315398
Molecular consequence:
  • NM_018848.3:c.830T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170784.3:c.830T>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
SCV004114656PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Mar 22, 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, SCV004114656.3

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

Description

The MKKS c.830T>C variant is predicted to result in the amino acid substitution p.Leu277Pro. This variant has been reported in the compound heterozygous state in at least one individual affected with Bardet-Biedl syndrome, and segregated with disease in the family (Katsanis et al. 2000. PubMed ID: 10973251; Moore et al. 2005. PubMed ID: 15637713). Functional studies revealed that this variant causes disruption of the MKKS-BBS12 interaction and could not rescue the morphant phenotype in zebrafish (Seo et al. 2010. PubMed ID: 20080638; Zaghloul et al. 2010. PubMed ID: 20498079, Supplementary Table 5; Hulleman et al. 2016. PubMed ID: 26900326). At PreventionGenetics, we identified this variant in the heterozygous state, along with a second heterozygous pathogenic variant, in an affected patient (internal data). Based on these observations, this variant is classified as pathogenic.

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

Last Updated: Oct 20, 2024