NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) AND Bardet-Biedl syndrome 2

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Mar 20, 2024
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:: RCV000667111.4

Allele description [Variation Report for NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)]

NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

Preferred name:

NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)

HGVS:

NC_000016.10:g.56484820G>A
NG_009312.2:g.40205C>T
NM_001377456.1:c.2107C>T
NM_031885.5:c.2107C>TMANE SELECT
NP_001364385.1:p.Arg703Ter
NP_114091.3:p.Arg703Ter
NP_114091.4:p.Arg703Ter
NC_000016.9:g.56518732G>A
NG_009312.1:g.40464C>T
NM_031885.3:c.2107C>T
NM_031885.4:c.2107C>T
NR_165293.1:n.2397C>T
NR_165294.1:n.2394C>T
NR_165295.1:n.2225C>T
NR_165296.1:n.2097C>T
NR_165297.1:n.2097C>T

Protein change:

R703*

Links:

dbSNP: rs567573386

NCBI 1000 Genomes Browser:

rs567573386

Molecular consequence:

NR_165293.1:n.2397C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165294.1:n.2394C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165295.1:n.2225C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165296.1:n.2097C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165297.1:n.2097C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001377456.1:c.2107C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_031885.5:c.2107C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000791510	Counsyl	no assertion criteria provided	Likely pathogenic (May 15, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25999675, 21344540, 27659767
SCV001457430	Natera, Inc.	no assertion criteria provided	Likely pathogenic (Sep 16, 2020)	germline	clinical testing
SCV004213980	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 20, 2024)	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

SCV000791510

Counsyl

no assertion criteria provided

Likely pathogenic
(May 15, 2017)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001457430

Natera, Inc.

no assertion criteria provided

Likely pathogenic
(Sep 16, 2020)

germline

clinical testing

SCV004213980

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 20, 2024)

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

Citations

PubMed

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yang J, Guo X, Yin Y, Wang J, Zhang Q.

Mol Vis. 2015;21:477-86.

PubMed [citation]

PMID:: 25999675
PMCID:: PMC4415588

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E.

Hum Mutat. 2011 Jun;32(6):610-9. doi: 10.1002/humu.21480. Epub 2011 Mar 22.

PubMed [citation]

PMID:: 21344540

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000791510.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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 Natera, Inc., SCV001457430.1

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

#	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

From Baylor Genetics, SCV004213980.2

#	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: Nov 30, 2024

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