NM_031885.5(BBS2):c.661del (p.Leu221fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 23, 2021
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:: RCV002517028.3

Allele description [Variation Report for NM_031885.5(BBS2):c.661del (p.Leu221fs)]

NM_031885.5(BBS2):c.661del (p.Leu221fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

16q13

Genomic location:

Preferred name:

NM_031885.5(BBS2):c.661del (p.Leu221fs)

HGVS:

NC_000016.10:g.56506178del
NG_009312.2:g.18849del
NM_001377456.1:c.661del
NM_031885.5:c.661delMANE SELECT
NP_001364385.1:p.Leu221fs
NP_114091.4:p.Leu221fs
NC_000016.9:g.56540090del
NG_009312.1:g.19108del
NM_031885.3:c.661delC
NM_031885.4:c.661delC
NR_165293.1:n.823del
NR_165294.1:n.823del
NR_165295.1:n.823del
NR_165296.1:n.823del
NR_165297.1:n.823del

Protein change:

L221fs

Links:

dbSNP: rs770258677

NCBI 1000 Genomes Browser:

rs770258677

Molecular consequence:

NM_001377456.1:c.661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_031885.5:c.661del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_165293.1:n.823del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165294.1:n.823del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165295.1:n.823del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165296.1:n.823del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165297.1:n.823del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003651427	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Feb 23, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003651427

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Feb 23, 2021)

germline

clinical testing

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

Citation Link

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

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K.

Hum Mutat. 2010 Apr;31(4):429-36. doi: 10.1002/humu.21204.

PubMed [citation]

PMID:: 20120035

Details of each submission

From Ambry Genetics, SCV003651427.2

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

Description

The c.661delC (p.L221Ffs*25) alteration, located in exon 6 (coding exon 6) of the BBS2 gene, consists of a deletion of one nucleotide at position 661, causing a translational frameshift with a predicted alternate stop codon after 25 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the BBS2 c.661delC alteration has an overall frequency of <0.01% (7/282674) total alleles studied. The highest observed frequency was 0.02% (5/25080) of European (Finnish) alleles. This pathogenic alteration has been reported in multiple unrelated individuals with Bardet-Biedl syndrome (BBS) in the homozygous state or in conjunction with a second pathogenic BBS2 allele (Hjortshøj, 2010). Based on the available evidence, this alteration is classified as pathogenic.

#	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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