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NM_170784.3(MKKS):c.676C>T (p.Gln226Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 28, 2021
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:
RCV001909930.4

Allele description [Variation Report for NM_170784.3(MKKS):c.676C>T (p.Gln226Ter)]

NM_170784.3(MKKS):c.676C>T (p.Gln226Ter)

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.676C>T (p.Gln226Ter)
HGVS:
  • NC_000020.11:g.10412839G>A
  • NG_009109.2:g.26380C>T
  • NM_018848.3:c.676C>T
  • NM_170784.3:c.676C>TMANE SELECT
  • NP_061336.1:p.Gln226Ter
  • NP_740754.1:p.Gln226Ter
  • NC_000020.10:g.10393487G>A
Protein change:
Q226*
Links:
dbSNP: rs2122234652
NCBI 1000 Genomes Browser:
rs2122234652
Molecular consequence:
  • NM_018848.3:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_170784.3:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Bardet-Biedl syndrome (BBS)
Identifiers:
MONDO: MONDO:0015229; MedGen: C0752166; Orphanet: 110; OMIM: PS209900
Name:
McKusick-Kaufman syndrome (MKKS)
Synonyms:
Hydrometrocolpos syndrome; Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
Identifiers:
MONDO: MONDO:0009367; MedGen: C0948368; Orphanet: 2473; OMIM: 236700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002186016Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jun 28, 2021)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

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

Am J Hum Genet. 2001 Mar;68(3):606-16. Epub 2001 Feb 1. Erratum in: Am J Hum Genet 2001 Oct;69(4):922.

PubMed [citation]
PMID:
11179009
PMCID:
PMC1274474

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Ullah A, Umair M, Yousaf M, Khan SA, Nazim-Ud-Din M, Shah K, Ahmad F, Azeem Z, Ali G, Alhaddad B, Rafique A, Jan A, Haack TB, Strom TM, Meitinger T, Ghous T, Ahmad W.

Mol Vis. 2017;23:482-494.

PubMed [citation]
PMID:
28761321
PMCID:
PMC5524433
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002186016.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MKKS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln226*) in the MKKS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MKKS are known to be pathogenic (PMID: 11179009, 28761321, 30614526).

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

Last Updated: Sep 29, 2024