NM_152384.3(BBS5):c.668A>T (p.Glu223Val) AND BBS5-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 13, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004753433.1

Allele description [Variation Report for NM_152384.3(BBS5):c.668A>T (p.Glu223Val)]

NM_152384.3(BBS5):c.668A>T (p.Glu223Val)

Gene:

BBS5:Bardet-Biedl syndrome 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

Preferred name:

NM_152384.3(BBS5):c.668A>T (p.Glu223Val)

HGVS:

NC_000002.12:g.169497676A>T
NG_011567.1:g.23181A>T
NM_152384.3:c.668A>TMANE SELECT
NP_689597.1:p.Glu223Val
NC_000002.11:g.170354186A>T
NM_152384.2:c.668A>T

Protein change:

E223V

Links:

dbSNP: rs775524491

NCBI 1000 Genomes Browser:

rs775524491

Molecular consequence:

NM_152384.3:c.668A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: BBS5-related disorder
Synonyms:: BBS5-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Pseudomonas putida strain sample-184-1, whole genome shotgun sequencing project
Pseudomonas putida strain sample-184-1, whole genome shotgun sequencing project
gi|2775693861|gb|JBFNYA000000000.1| A010000000

Nucleotide
Genome
Genome

biosample
Foreign Professional Personnel
Foreign Professional Personnel
Persons who have acquired academic or specialized training in countries other than that in which they are working. The concept excludes physicians for which FOREIGN MEDICAL GR...<br/>Year introduced: 1971

MeSH

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
SCV005348670	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Aug 13, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005348670

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Aug 13, 2024)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005348670.1

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

Description

The BBS5 c.668A>T variant is predicted to result in the amino acid substitution p.Glu223Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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: Oct 13, 2024

ClinVar

Relating variation to medicine