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NM_024685.4(BBS10):c.146G>T (p.Arg49Leu) AND Bardet-Biedl syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 29, 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:
RCV004690898.1

Allele description [Variation Report for NM_024685.4(BBS10):c.146G>T (p.Arg49Leu)]

NM_024685.4(BBS10):c.146G>T (p.Arg49Leu)

Gene:
BBS10:Bardet-Biedl syndrome 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q21.2
Genomic location:
Preferred name:
NM_024685.4(BBS10):c.146G>T (p.Arg49Leu)
HGVS:
  • NC_000012.12:g.76348213C>A
  • NG_016357.1:g.5230G>T
  • NG_126112.1:g.593C>A
  • NM_024685.4:c.146G>TMANE SELECT
  • NP_078961.3:p.Arg49Leu
  • LRG_1255t1:c.146G>T
  • LRG_1255:g.5230G>T
  • LRG_1255p1:p.Arg49Leu
  • NC_000012.11:g.76741993C>A
Protein change:
R49L
Molecular consequence:
  • NM_024685.4:c.146G>T - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005184455Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(May 29, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.

Yohe S, Sivasankar M, Ghosh A, Ghosh A, Holle J, Murugan S, Gupta R, Schimmenti LA, Vedam R, Thyagarajan B.

Mol Genet Genomic Med. 2020 Feb;8(2):e1081. doi: 10.1002/mgg3.1081. Epub 2019 Dec 9.

PubMed [citation]
PMID:
31816670
PMCID:
PMC7005662

Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.

Gopinath C, Rompicherla R, Mathias GP, Patil R, Poornachandra B, Vinekar A, Mochi TB, Braganza S, Shetty KB, Kumaramanickavel G, Ghosh A.

Graefes Arch Clin Exp Ophthalmol. 2023 Jul;261(7):2003-2017. doi: 10.1007/s00417-022-05955-5. Epub 2023 Jan 17.

PubMed [citation]
PMID:
36648511

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005184455.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: BBS10 c.146G>T (p.Arg49Leu) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 247886 control chromosomes. c.146G>T has been reported in the literature as homozygous in an individual affected with clinical features of Bardet-Biedl Syndrome (Yohe_2020, Gopinath_2023). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. However, a different variant affecting the same codon has been classified as pathogenic (c.145C>T (p.Arg49Trp), supporting the critical relevance of codon 49 to BBS10 protein function. The following publications have been ascertained in the context of this evaluation (PMID: 36648511, 31816670). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Aug 18, 2024