NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) AND Bardet-Biedl syndrome 2

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 27, 2017
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:: RCV000665273.5

Allele description [Variation Report for NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)]

NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)

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.1207C>T (p.Arg403Cys)

HGVS:

NC_000016.10:g.56501371G>A
NG_009312.2:g.23654C>T
NM_001377456.1:c.1207C>T
NM_031885.5:c.1207C>TMANE SELECT
NP_001364385.1:p.Arg403Cys
NP_114091.4:p.Arg403Cys
NC_000016.9:g.56535283G>A
NG_009312.1:g.23913C>T
NM_031885.3:c.1207C>T
NR_165293.1:n.1369C>T
NR_165294.1:n.1369C>T
NR_165295.1:n.1369C>T
NR_165296.1:n.1369C>T
NR_165297.1:n.1369C>T

Protein change:

R403C

Links:

dbSNP: rs766873519

NCBI 1000 Genomes Browser:

rs766873519

Molecular consequence:

NM_001377456.1:c.1207C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_031885.5:c.1207C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_165293.1:n.1369C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165294.1:n.1369C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165295.1:n.1369C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165296.1:n.1369C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165297.1:n.1369C>T - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000398059	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 09 May 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV000789365	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jan 27, 2017)	unknown	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

SCV000398059

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

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

Citation Link,

SCV000789365

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Jan 27, 2017)

unknown

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

Citations

PubMed

In search of triallelism in Bardet-Biedl syndrome.

Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, et al.

Eur J Hum Genet. 2012 Apr;20(4):420-7. doi: 10.1038/ejhg.2011.205. Epub 2012 Feb 22.

PubMed [citation]

PMID:: 22353939
PMCID:: PMC3306854

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000398059.3

#	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.1207C>T (p.Arg403Cys) missense variant has been reported in one study in which it is found in two consanguineous families of Arab origin with Bardet-Biedl syndrome (Abu-Safieh et al. 2012). In one family, the single affected proband carried the variant in a homozygous state, while in the second family the variant was carried in a heterozygous state in three affected siblings, who also carried variants in three other BBS genes of unknown zygosity. The p.Arg403Cys variant was absent from 96 ethnically matched controls but is reported at a frequency of 0.00010 in the European (non-Finnish) population of the Exome Aggregation Consortium. The evidence for this variant is limited. The p.Arg403Cys variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for Bardet-Biedl syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#	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 Counsyl, SCV000789365.1

#	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 16, 2024

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