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:
current
Accession:
RCV001319221.1

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)

Gene:
BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_031885.5(BBS2):c.1176_1184del (p.Asn393_Thr395del)
HGVS:
  • 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]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
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

Citations

PubMed

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]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001509957.1

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

Description

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.

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

Last Updated: Oct 7, 2021

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