NM_031885.5(BBS2):c.440del (p.Phe147fs) AND BBS2-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 13, 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:: RCV004538446.1

Allele description [Variation Report for NM_031885.5(BBS2):c.440del (p.Phe147fs)]

NM_031885.5(BBS2):c.440del (p.Phe147fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

16q13

Genomic location:

Preferred name:

NM_031885.5(BBS2):c.440del (p.Phe147fs)

HGVS:

NC_000016.10:g.56511192del
NG_009312.2:g.13835del
NM_001377456.1:c.440del
NM_031885.5:c.440delMANE SELECT
NP_001364385.1:p.Phe147fs
NP_114091.4:p.Phe147fs
NC_000016.9:g.56545102del
NC_000016.9:g.56545104del
NG_009312.1:g.14094del
NM_031885.3:c.440del
NM_031885.3:c.440delT
NR_165293.1:n.602del
NR_165294.1:n.602del
NR_165295.1:n.602del
NR_165296.1:n.602del
NR_165297.1:n.602del

Protein change:

F147fs

Links:

dbSNP: rs1433422530

NCBI 1000 Genomes Browser:

rs1433422530

Molecular consequence:

NM_001377456.1:c.440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_031885.5:c.440del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_165293.1:n.602del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165294.1:n.602del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165295.1:n.602del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165296.1:n.602del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165297.1:n.602del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: BBS2-related disorder
Synonyms:: BBS2-Related Disorders; BBS2-related condition
Identifiers:: MedGen: CN239228

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004117123	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 13, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004117123

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 13, 2023)

germline

clinical testing

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004117123.1

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

Description

The BBS2 c.440delT variant is predicted to result in a frameshift and premature protein termination (p.Phe147Serfs*54). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56545101-GA-G). Frameshift variants in BBS2 are expected to be pathogenic. This variant is interpreted as likely 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: Nov 10, 2024

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