U.S. flag

An official website of the United States government

NM_001278293.3(ARL6):c.92C>T (p.Thr31Met) AND Bardet-Biedl syndrome 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2004
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:
RCV000002123.4

Allele description

NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)

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.92C>T (p.Thr31Met)
HGVS:
  • NC_000003.12:g.97768199C>T
  • NG_008119.2:g.8449C>T
  • NM_001278293.3:c.92C>TMANE SELECT
  • NM_001323513.2:c.92C>T
  • NM_001323514.2:c.92C>T
  • NM_032146.5:c.92C>T
  • NM_177976.3:c.92C>T
  • NP_001265222.1:p.Thr31Met
  • NP_001310442.1:p.Thr31Met
  • NP_001310443.1:p.Thr31Met
  • NP_115522.1:p.Thr31Met
  • NP_816931.1:p.Thr31Met
  • NC_000003.11:g.97487043C>T
  • NM_001278293.1:c.92C>T
  • NR_103511.3:n.438C>T
  • NR_136595.2:n.438C>T
  • NR_136597.2:n.339C>T
  • NR_136598.2:n.339C>T
  • NR_136600.3:n.339C>T
  • NR_136601.3:n.339C>T
  • NR_136602.3:n.339C>T
  • Q9H0F7:p.Thr31Met
Protein change:
T31M; THR31MET
Links:
UniProtKB: Q9H0F7#VAR_027643; OMIM: 608845.0003; dbSNP: rs104893680
NCBI 1000 Genomes Browser:
rs104893680
Molecular consequence:
  • NM_001278293.3:c.92C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323513.2:c.92C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323514.2:c.92C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032146.5:c.92C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177976.3:c.92C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103511.3:n.438C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136595.2:n.438C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136597.2:n.339C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136598.2:n.339C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136600.3:n.339C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136601.3:n.339C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136602.3:n.339C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Bardet-Biedl syndrome 3 (BBS3)
Identifiers:
MONDO: MONDO:0010832; MedGen: C1859564; Orphanet: 110; OMIM: 600151

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022281OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2004) 		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

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR.

Nat Genet. 2004 Sep;36(9):989-93. Epub 2004 Aug 15.

PubMed [citation]
PMID:
15314642

Details of each submission

From OMIM, SCV000022281.3

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

Description

In affected members of a Saudi Arabian family with BBS3 (600151), Fan et al. (2004) identified a homozygous missense mutation, thr31 to met (T31M), resulting from a C-to-T transition at nucleotide 445 in exon 3 of the ARL6 gene.

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

Last Updated: May 27, 2023