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NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2018
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:
RCV001092931.19

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]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001249676CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Pathogenic
(Jun 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001249676.23

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jul 15, 2024