NM_031885.5(BBS2):c.627_628del (p.Cys210fs) AND Bardet-Biedl syndrome 2

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Oct 3, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000673635.2

Allele description [Variation Report for NM_031885.5(BBS2):c.627_628del (p.Cys210fs)]

NM_031885.5(BBS2):c.627_628del (p.Cys210fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

16q13

Genomic location:

Preferred name:

NM_031885.5(BBS2):c.627_628del (p.Cys210fs)

HGVS:

NC_000016.10:g.56506210_56506211del
NG_009312.2:g.18815_18816del
NM_001377456.1:c.627_628del
NM_031885.5:c.627_628delMANE SELECT
NP_001364385.1:p.Cys210fs
NP_114091.4:p.Cys210fs
NC_000016.9:g.56540121_56540122del
NC_000016.9:g.56540122_56540123del
NG_009312.1:g.19074_19075del
NM_031885.3:c.627_628delTT
NR_165293.1:n.789_790del
NR_165294.1:n.789_790del
NR_165295.1:n.789_790del
NR_165296.1:n.789_790del
NR_165297.1:n.789_790del

Protein change:

C210fs

Links:

dbSNP: rs773417074

NCBI 1000 Genomes Browser:

rs773417074

Molecular consequence:

NM_001377456.1:c.627_628del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_031885.5:c.627_628del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_165293.1:n.789_790del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165294.1:n.789_790del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165295.1:n.789_790del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165296.1:n.789_790del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165297.1:n.789_790del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Bardet-Biedl syndrome 2 (BBS2)
Identifiers:: MONDO: MONDO:0014432; MedGen: C2936863; Orphanet: 110; OMIM: 615981

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000798862	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Mar 27, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV004213999	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 3, 2023)	unknown	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

SCV000798862

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Mar 27, 2018)

unknown

clinical testing

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

Citation Link,

SCV004213999

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 3, 2023)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossée M, Dollfus H.

Eur J Hum Genet. 2005 May;13(5):607-16.

PubMed [citation]

PMID:: 15770229

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 Counsyl, SCV000798862.1

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

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

From Baylor Genetics, SCV004213999.1

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

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine