NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) AND Bardet-Biedl syndrome 13

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 28, 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:: RCV003475049.2

Allele description [Variation Report for NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)]

NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)

Gene:

MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)

HGVS:

NC_000017.11:g.58214748G>A
NG_013032.1:g.9858C>T
NM_001321268.2:c.-94-361C>T
NM_001321269.2:c.508C>T
NM_001330397.2:c.508C>T
NM_017777.4:c.508C>TMANE SELECT
NP_001308198.1:p.Arg170Ter
NP_001317326.1:p.Arg170Ter
NP_060247.2:p.Arg170Ter
NP_060247.2:p.Arg170Ter
LRG_687t1:c.508C>T
LRG_687:g.9858C>T
LRG_687p1:p.Arg170Ter
NC_000017.10:g.56292109G>A
NM_017777.3:c.508C>T

Protein change:

R170*

Links:

dbSNP: rs756853299

NCBI 1000 Genomes Browser:

rs756853299

Molecular consequence:

NM_001321268.2:c.-94-361C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001321269.2:c.508C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001330397.2:c.508C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_017777.4:c.508C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Bardet-Biedl syndrome 13 (BBS13)
Identifiers:: MONDO: MONDO:0014441; MedGen: C2673873; Orphanet: 110; OMIM: 615990

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004194923	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 28, 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

SCV004194923

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 28, 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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004194923.2

#	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: Jun 17, 2024

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