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NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) AND Bardet-Biedl syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 6, 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:
RCV005056820.1

Allele description

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:
Bardet-Biedl syndrome (BBS)
Identifiers:
MONDO: MONDO:0015229; MedGen: C0752166; Orphanet: 110; OMIM: PS209900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004813168Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Nov 6, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E.

J Med Genet. 2010 Jul;47(7):453-63. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14.

PubMed [citation]
PMID:
20472660

Kidney failure in Bardet-Biedl syndrome.

Meyer JR, Krentz AD, Berg RL, Richardson JG, Pomeroy J, Hebbring SJ, Haws RM.

Clin Genet. 2022 Apr;101(4):429-441. doi: 10.1111/cge.14119.

PubMed [citation]
PMID:
35112343
PMCID:
PMC9311438

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004813168.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: MKKS c.121G>C (p.Gly41Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 251080 control chromosomes. c.121G>C has been reported in the literature in individuals affected with Bardet-Biedl Syndrome, including as a homozygote and compound heterozygote genotype (e.g. Billingsley_2010, Meyer_2022, Labcorp (formerly Invitae)). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 20472660, 35112343). ClinVar contains an entry for this variant (Variation ID: 841278). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: May 16, 2025