NM_170784.2(MKKS):c.155G>A (p.Gly52Asp) AND Bardet-Biedl syndrome 6

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2000
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:: RCV000005636.4

Allele description

NM_170784.2(MKKS):c.155G>A (p.Gly52Asp)

Gene:

MKKS:McKusick-Kaufman syndrome [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.2

Genomic location:

Preferred name:

NM_170784.2(MKKS):c.155G>A (p.Gly52Asp)

HGVS:

NC_000020.11:g.10413360C>T
NG_009109.1:g.25859G>A
NM_170784.2:c.155G>A
NP_740754.1:p.Gly52Asp
NC_000020.10:g.10394008C>T
NR_072977.1:n.364-4557G>A
Q9NPJ1:p.Gly52Asp

Protein change:

G52D; GLY52ASP

Links:

UniProtKB: Q9NPJ1#VAR_009882; OMIM: 604896.0005; dbSNP: rs28937875

NCBI 1000 Genomes Browser:

rs28937875

Allele Frequency:

0.00001(T)

Molecular consequence:

NR_072977.1:n.364-4557G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_170784.2:c.155G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025818	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2000)	germline	literature only	Slavotinek, A. M., Stone, E. M., Mykytyn, K., Heckenlively, J. R., Green, J. S., Heon, E., Musarella, M. A., Parfrey, P. S., Sheffield, V. C., Biesecker, L. G. Mutations in MKKS cause Bardet-Biedl syndrome. Nature Genet. 26: 15-16, 2000. Note: Erratum: Nature Genet. 28: 193 only, 2001.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025818

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2000)

germline

literature only

Slavotinek, A. M., Stone, E. M., Mykytyn, K., Heckenlively, J. R., Green, J. S., Heon, E., Musarella, M. A., Parfrey, P. S., Sheffield, V. C., Biesecker, L. G. Mutations in MKKS cause Bardet-Biedl syndrome. Nature Genet. 26: 15-16, 2000. Note: Erratum: Nature Genet. 28: 193 only, 2001.

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

Details of each submission

From OMIM, SCV000025818.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

Description

In a patient with Bardet-Biedl syndrome-6 (BBS6; 605231), a 13-year-old Hispanic girl with severe retinitis pigmentosa, postaxial polydactyly, mental retardation, and obesity, Slavotinek et al. (2000) found compound heterozygosity for a missense (1042G-A, gly52 to asp; G52D) and a nonsense (1679T-A, tyr264 to ter; Y264X) mutation in exon 3 of the MKKS gene.

#	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

Last Updated: Sep 6, 2017

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