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NM_031885.5(BBS2):c.217C>T (p.Gln73Ter) AND Bardet-Biedl syndrome 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 1, 2019
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:
RCV001264339.4

Allele description [Variation Report for NM_031885.5(BBS2):c.217C>T (p.Gln73Ter)]

NM_031885.5(BBS2):c.217C>T (p.Gln73Ter)

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.217C>T (p.Gln73Ter)
HGVS:
  • NC_000016.10:g.56514581G>A
  • NG_009312.2:g.10444C>T
  • NM_001377456.1:c.217C>T
  • NM_031885.5:c.217C>TMANE SELECT
  • NP_001364385.1:p.Gln73Ter
  • NP_114091.4:p.Gln73Ter
  • NC_000016.9:g.56548493G>A
  • NG_009312.1:g.10703C>T
  • NR_165293.1:n.379C>T
  • NR_165294.1:n.379C>T
  • NR_165295.1:n.379C>T
  • NR_165296.1:n.379C>T
  • NR_165297.1:n.379C>T
Protein change:
Q73*
Links:
dbSNP: rs199940492
NCBI 1000 Genomes Browser:
rs199940492
Molecular consequence:
  • NR_165293.1:n.379C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.379C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.379C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.379C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.379C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001377456.1:c.217C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_031885.5:c.217C>T - nonsense - [Sequence Ontology: SO:0001587]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001442443Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))		Likely pathogenic
(Apr 1, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV001442443.1

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

Last Updated: May 7, 2024