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NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) AND Bardet-Biedl syndrome 2

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Mar 13, 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:
RCV000673306.5

Allele description [Variation Report for NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)]

NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)

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.241G>T (p.Gly81Cys)
HGVS:
  • NC_000016.10:g.56514557C>A
  • NG_009312.2:g.10468G>T
  • NM_001377456.1:c.241G>T
  • NM_031885.5:c.241G>TMANE SELECT
  • NP_001364385.1:p.Gly81Cys
  • NP_114091.4:p.Gly81Cys
  • NC_000016.9:g.56548469C>A
  • NG_009312.1:g.10727G>T
  • NM_031885.3:c.241G>T
  • NR_165293.1:n.403G>T
  • NR_165294.1:n.403G>T
  • NR_165295.1:n.403G>T
  • NR_165296.1:n.403G>T
  • NR_165297.1:n.403G>T
Protein change:
G81C
Links:
dbSNP: rs750506474
NCBI 1000 Genomes Browser:
rs750506474
Molecular consequence:
  • NM_001377456.1:c.241G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.241G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.403G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.403G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.403G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.403G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.403G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Bardet-Biedl syndrome 2 (BBS2)
Identifiers:
MONDO: MONDO:0014432; MedGen: C2936863; Orphanet: 110; OMIM: 615981

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004214017Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 13, 2024)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E.

Hum Mutat. 2011 Jun;32(6):610-9. doi: 10.1002/humu.21480. Epub 2011 Mar 22.

PubMed [citation]
PMID:
21344540

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A, Bahr A, Bähr L, Fleischhauer J, Zinkernagel MS, Winkler N, Barthelmes D, Berger L, Gerth-Kahlert C, Neidhardt J, Berger W.

Sci Rep. 2016 Jun 29;6:28755. doi: 10.1038/srep28755.

PubMed [citation]
PMID:
27353947
PMCID:
PMC4926080
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000798492.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV004214017.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000798492Counsyl
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Mar 12, 2018)
unknownclinical testing

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

Citation Link

Last Updated: Jul 15, 2024