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NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs) AND Bardet-Biedl syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 11, 2023
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:
RCV003633057.1

Allele description [Variation Report for NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs)]

NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs)

Gene:
BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
4q27
Genomic location:
Preferred name:
NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs)
HGVS:
  • NC_000004.12:g.122743076TG[1]
  • NG_021203.1:g.15375TG[1]
  • NG_021203.2:g.47636TG[1]
  • NM_001178007.2:c.1186_1187del
  • NM_152618.3:c.1186_1187delMANE SELECT
  • NP_001171478.1:p.Trp396fs
  • NP_689831.2:p.Trp396fs
  • NC_000004.11:g.123664231TG[1]
  • NC_000004.11:g.123664231_123664232del
Protein change:
W396fs
Molecular consequence:
  • NM_001178007.2:c.1186_1187del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152618.3:c.1186_1187del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004462263Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 11, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.

Pawlik B, Mir A, Iqbal H, Li Y, Nürnberg G, Becker C, Qamar R, Nürnberg P, Wollnik B.

Mol Syndromol. 2010 Feb;1(1):27-34. doi: 10.1159/000276763. Epub 2010 Jan 15.

PubMed [citation]
PMID:
20648243
PMCID:
PMC2883849

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV004462263.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BBS12 protein in which other variant(s) (p.Ser701*) have been determined to be pathogenic (PMID: 20648243). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with BBS12-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp396Glyfs*28) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 315 amino acid(s) of the BBS12 protein.

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

Last Updated: Feb 28, 2024