NM_031885.5(BBS2):c.1176_1184del (p.Asn393_Thr395del) AND Bardet-Biedl syndrome

Clinical significance:Uncertain significance (Last evaluated: Feb 2, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_031885.5(BBS2):c.1176_1184del (p.Asn393_Thr395del)]

NM_031885.5(BBS2):c.1176_1184del (p.Asn393_Thr395del)

BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
NM_031885.5(BBS2):c.1176_1184del (p.Asn393_Thr395del)
  • NC_000016.10:g.56501394_56501402del
  • NG_009312.1:g.23882_23890del
  • NG_009312.2:g.23623_23631del
  • NM_001377456.1:c.1176_1184del
  • NM_031885.5:c.1176_1184delMANE SELECT
  • NP_001364385.1:p.Asn393_Thr395del
  • NP_114091.4:p.Asn393_Thr395del
  • NC_000016.9:g.56535306_56535314del
  • NR_165293.1:n.1338_1346del
  • NR_165294.1:n.1338_1346del
  • NR_165295.1:n.1338_1346del
  • NR_165296.1:n.1338_1346del
  • NR_165297.1:n.1338_1346del
Molecular consequence:
  • NM_001377456.1:c.1176_1184del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_031885.5:c.1176_1184del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NR_165293.1:n.1338_1346del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.1338_1346del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.1338_1346del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.1338_1346del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.1338_1346del - non-coding transcript variant - [Sequence Ontology: SO:0001619]


Bardet-Biedl syndrome (BBS)
MONDO: MONDO:0015229; MedGen: C0752166; Orphanet: 110; OMIM: PS209900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001509957Invitaecriteria provided, single submitter
Uncertain significance
(Feb 2, 2020)
germlineclinical testing

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

Summary from all submissions

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



Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

Details of each submission

From Invitae, SCV001509957.1

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


This variant, c.1175_1184delinsA, is a complex sequence change that results in the 4 amino acids and insertion of one amino acid(s) in the BBS2 protein (p.Gly392_Thr395delinsAsp). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals with BBS2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 7, 2021

Support Center