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NM_170784.3(MKKS):c.973A>C (p.Thr325Pro) AND Bardet-Biedl syndrome 1, modifier of

Germline classification:
risk factor (1 submission)
Last evaluated:
Jul 15, 2003
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:
RCV000005645.4

Allele description [Variation Report for NM_170784.3(MKKS):c.973A>C (p.Thr325Pro)]

NM_170784.3(MKKS):c.973A>C (p.Thr325Pro)

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.973A>C (p.Thr325Pro)
HGVS:
  • NC_000020.11:g.10412542T>G
  • NG_009109.2:g.26677A>C
  • NM_018848.3:c.973A>C
  • NM_170784.3:c.973A>CMANE SELECT
  • NP_061336.1:p.Thr325Pro
  • NP_740754.1:p.Thr325Pro
  • NC_000020.10:g.10393190T>G
  • Q9NPJ1:p.Thr325Pro
Protein change:
T325P; THR325PRO
Links:
UniProtKB: Q9NPJ1#VAR_038901; OMIM: 604896.0014; dbSNP: rs137853156
NCBI 1000 Genomes Browser:
rs137853156
Molecular consequence:
  • NM_018848.3:c.973A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170784.3:c.973A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bardet-Biedl syndrome 1, modifier of
Identifiers:
MedGen: C2675305

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025827OMIM
no assertion criteria provided
risk factor
(Jul 15, 2003) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N.

Hum Mol Genet. 2003 Jul 15;12(14):1651-9.

PubMed [citation]
PMID:
12837689

Details of each submission

From OMIM, SCV000025827.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 1 of 2 sisters with BBS1 (209900), Badano et al. (2003) identified a 973A-C transversion in exon 3 of the MKKS gene, resulting in a thr325-to-pro (T325P) substitution which altered the 3-dimensional protein structure. Both sisters were compound heterozygous for mutations in the BBS1 gene: met390-to-arg (M390R; 209901.0001) and a 1-bp deletion (1650delC; 209901.0008). The sister with the T325P mutation was more severely affected than the sister without the mutation.

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

Last Updated: Sep 16, 2023