NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn) AND Bardet-Biedl syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 5, 2020
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:: RCV001199405.2

Allele description [Variation Report for NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn)]

NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn)

Gene:

ARL6:ADP ribosylation factor like GTPase 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q11.2

Genomic location:

Preferred name:

NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn)

HGVS:

NC_000003.12:g.97791826G>A
NG_008119.2:g.32076G>A
NM_001278293.3:c.535G>AMANE SELECT
NM_001323513.2:c.535G>A
NM_001323514.2:c.479+3707G>A
NM_032146.5:c.535G>A
NM_177976.3:c.535G>A
NP_001265222.1:p.Asp179Asn
NP_001310442.1:p.Glu179Lys
NP_115522.1:p.Asp179Asn
NP_816931.1:p.Asp179Asn
NC_000003.11:g.97510670G>A
NM_032146.4:c.535G>A
NR_103511.3:n.881G>A
NR_136595.2:n.1438G>A
NR_136597.2:n.1339G>A
NR_136598.2:n.786G>A
NR_136600.3:n.782G>A
NR_136601.3:n.782G>A

Protein change:

D179N

Links:

dbSNP: rs2037752645

NCBI 1000 Genomes Browser:

rs2037752645

Molecular consequence:

NM_001323514.2:c.479+3707G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001278293.3:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323513.2:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_032146.5:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_177976.3:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_103511.3:n.881G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_136595.2:n.1438G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_136597.2:n.1339G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_136598.2:n.786G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_136600.3:n.782G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_136601.3:n.782G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Bardet-Biedl syndrome (BBS)
Identifiers:: MONDO: MONDO:0015229; MedGen: C0752166; Orphanet: 110; OMIM: PS209900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001169714	Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 5, 2020)	inherited	clinical testing, in vitro	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001169714

Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 5, 2020)

inherited

clinical testing, in vitro

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	inherited	yes	10	8	not provided	not provided	not provided	clinical testing, in vitro

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 Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University, SCV001169714.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	10	not provided	not provided	clinical testing	PubMed (1)
2	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

Description

absent from gnomAD and 1000genomes, variation predicted and confirmed to affect splicing by removing the exon 8 from the mRNA

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		10	not provided	8	not provided
2	inherited	yes	not provided	skin fibroblast	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 15, 2022

ClinVar

Relating variation to medicine