NM_170784.3(MKKS):c.295T>C (p.Cys99Arg) AND Bardet-Biedl syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 15, 2018
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:: RCV000735912.2

Allele description [Variation Report for NM_170784.3(MKKS):c.295T>C (p.Cys99Arg)]

NM_170784.3(MKKS):c.295T>C (p.Cys99Arg)

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.295T>C (p.Cys99Arg)

HGVS:

NC_000020.11:g.10413220A>G
NG_009109.2:g.25999T>C
NM_018848.3:c.295T>C
NM_170784.3:c.295T>CMANE SELECT
NP_061336.1:p.Cys99Arg
NP_740754.1:p.Cys99Arg
NC_000020.10:g.10393868A>G
NM_170784.3:c.295T>C

Protein change:

C99R

Links:

dbSNP: rs1297985227

NCBI 1000 Genomes Browser:

rs1297985227

Molecular consequence:

NM_018848.3:c.295T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_170784.3:c.295T>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000839543	Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University - French fetal BBS cohort	no assertion criteria provided	Pathogenic (Sep 15, 2018)	germline	provider interpretation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000839543

Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University - French fetal BBS cohort

no assertion criteria provided

Pathogenic
(Sep 15, 2018)

germline

provider interpretation

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	yes	not provided	not provided	not provided	not provided	not provided	provider interpretation

Citations

PubMed

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attié-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, et al.

Clin Genet. 2019 Mar;95(3):384-397. doi: 10.1111/cge.13500.

PubMed [citation]

PMID:: 30614526

Details of each submission

From Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University - French fetal BBS cohort, SCV000839543.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	PubMed (1)

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

Last Updated: Apr 6, 2024

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