NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) AND Bardet-Biedl syndrome 6

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Mar 27, 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:: RCV000005639.7

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:: Bardet-Biedl syndrome 6 (BBS6)
Identifiers:: MONDO: MONDO:0011523; MedGen: C1858054; Orphanet: 110; OMIM: 605231

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025821	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2005)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 10973251, 15637713
SCV004192599	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 27, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025821

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2005)

germline

literature only

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

SCV004192599

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 27, 2024)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR.

Nat Genet. 2000 Sep;26(1):67-70.

PubMed [citation]

PMID:: 10973251

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS.

Am J Med Genet A. 2005 Feb 1;132A(4):352-60.

PubMed [citation]

PMID:: 15637713
PMCID:: PMC3295827

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000025821.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a Newfoundland patient with Bardet-Biedl syndrome-6 (BBS6; 605231), Katsanis et al. (2000) found compound heterozygosity for 2 mutations in the MKKS gene: 280delT (604896.0007) and a missense mutation, leu277 to pro (L277P). The same patient was reported by Moore et al. (2005) as having been clinically diagnosed with Laurence-Moon syndrome (245800). Moore et al. (2005) considered their identification of mutations in the MKKS gene in a patient with Laurence-Moon syndrome as supporting the notion that Bardet-Biedl syndrome and Laurence-Moon syndrome are the same disorder.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004192599.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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