NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter) AND Bardet-Biedl syndrome 2

Clinical significance:Likely pathogenic (Last evaluated: Mar 26, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter)]

NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter)

BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter)
  • NC_000016.10:g.56497762A>T
  • NG_009312.1:g.27522T>A
  • NG_009312.2:g.27263T>A
  • NM_001377456.1:c.1778T>A
  • NM_031885.5:c.1778T>AMANE SELECT
  • NP_001364385.1:p.Leu593Ter
  • NP_114091.4:p.Leu593Ter
  • NC_000016.9:g.56531674A>T
  • NR_165293.1:n.2068T>A
  • NR_165294.1:n.2065T>A
  • NR_165295.1:n.1896T>A
  • NR_165296.1:n.1768T>A
  • NR_165297.1:n.1768T>A
Protein change:
Molecular consequence:
  • NR_165293.1:n.2068T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.2065T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.1896T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.1768T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.1768T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001377456.1:c.1778T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_031885.5:c.1778T>A - nonsense - [Sequence Ontology: SO:0001587]


Bardet-Biedl syndrome 2 (BBS2)
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)
SCV001442105Myriad Women's Health, Inc.no assertion criteria provided
Likely pathogenic
(Mar 26, 2019)
unknownclinical testing

Citation Link


NM_031885.3(BBS2):c.1778T>A(L593*) is expected to be pathogenic in the context of Bardet-Biedl syndrome, BBS2-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in BBS2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.


Summary from all submissions

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

Details of each submission

From Myriad Women's Health, Inc., SCV001442105.1

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

Last Updated: Oct 7, 2021

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