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NM_031885.5(BBS2):c.224T>G (p.Val75Gly) AND Bardet-Biedl syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 30, 2023
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:
RCV001002877.8

Allele description [Variation Report for NM_031885.5(BBS2):c.224T>G (p.Val75Gly)]

NM_031885.5(BBS2):c.224T>G (p.Val75Gly)

Gene:
BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)
HGVS:
  • NC_000016.10:g.56514574A>C
  • NG_009312.2:g.10451T>G
  • NM_001377456.1:c.224T>G
  • NM_031885.5:c.224T>GMANE SELECT
  • NP_001364385.1:p.Val75Gly
  • NP_114091.4:p.Val75Gly
  • NC_000016.9:g.56548486A>C
  • NG_009312.1:g.10710T>G
  • NM_031885.3:c.224T>G
  • NR_165293.1:n.386T>G
  • NR_165294.1:n.386T>G
  • NR_165295.1:n.386T>G
  • NR_165296.1:n.386T>G
  • NR_165297.1:n.386T>G
  • c.224T>G (p.Val75Gly)
Protein change:
V75G; VAL75GLY
Links:
OMIM: 606151.0002; dbSNP: rs121908174
NCBI 1000 Genomes Browser:
rs121908174
Molecular consequence:
  • NM_001377456.1:c.224T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.224T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.386T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.386T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.386T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.386T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.386T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001160910Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Pathogenic
(Jun 23, 2019) 		inheritedresearch

SCV001586209Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 30, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC.

Hum Mol Genet. 2001 Apr 1;10(8):865-74.

PubMed [citation]
PMID:
11285252

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

Esposito G, Testa F, Zacchia M, Crispo AA, Di Iorio V, Capolongo G, Rinaldi L, D'Antonio M, Fioretti T, Iadicicco P, Rossi S, Franzè A, Marciano E, Capasso G, Simonelli F, Salvatore F.

BMC Med Genet. 2017 Feb 1;18(1):10. doi: 10.1186/s12881-017-0372-0.

PubMed [citation]
PMID:
28143435
PMCID:
PMC5286791
See all PubMed Citations (5)

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001160910.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001586209.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 75 of the BBS2 protein (p.Val75Gly). This variant is present in population databases (rs121908174, gnomAD 0.0009%). This missense change has been observed in individuals with clinical features of Bardet-Biedl syndrome (PMID: 11285252, 28143435, 31456290). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4569). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BBS2 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects BBS2 function (PMID: 20498079). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024