NM_031885.5(BBS2):c.774del (p.Asn258fs) AND Bardet-Biedl syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 10, 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:: RCV001059813.6

Allele description [Variation Report for NM_031885.5(BBS2):c.774del (p.Asn258fs)]

NM_031885.5(BBS2):c.774del (p.Asn258fs)

Gene:

BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16q13

Genomic location:

Preferred name:

NM_031885.5(BBS2):c.774del (p.Asn258fs)

HGVS:

NC_000016.10:g.56505980del
NG_009312.2:g.19045del
NM_001377456.1:c.774del
NM_031885.5:c.774delMANE SELECT
NP_001364385.1:p.Asn258fs
NP_114091.4:p.Asn258fs
NC_000016.9:g.56539892del
NG_009312.1:g.19304del
NM_031885.3:c.774del
NR_165293.1:n.936del
NR_165294.1:n.936del
NR_165295.1:n.936del
NR_165296.1:n.936del
NR_165297.1:n.936del

Protein change:

N258fs

Links:

dbSNP: rs777218224

NCBI 1000 Genomes Browser:

rs777218224

Molecular consequence:

NM_001377456.1:c.774del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_031885.5:c.774del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_165293.1:n.936del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165294.1:n.936del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165295.1:n.936del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165296.1:n.936del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165297.1:n.936del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001224461	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 10, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11285252, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001224461

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 10, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC.

Hum Mol Genet. 2001 Apr 1;10(8):865-74.

PubMed [citation]

PMID:: 11285252

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001224461.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Asn258Lysfs*3) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs777218224, ExAC 0.001%). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252). This variant has not been reported in the literature in individuals with BBS2-related conditions.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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