NM_033028.5(BBS4):c.631C>T (p.Leu211Phe) AND BBS4-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 12, 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:: RCV003968683.2

Allele description [Variation Report for NM_033028.5(BBS4):c.631C>T (p.Leu211Phe)]

NM_033028.5(BBS4):c.631C>T (p.Leu211Phe)

Gene:

BBS4:Bardet-Biedl syndrome 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

Preferred name:

NM_033028.5(BBS4):c.631C>T (p.Leu211Phe)

HGVS:

NC_000015.10:g.72727983C>T
NG_009416.2:g.46799C>T
NM_001252678.2:c.115C>T
NM_001320665.2:c.631C>T
NM_033028.4:c.631C>T
NM_033028.5:c.631C>TMANE SELECT
NP_001239607.1:p.Leu39Phe
NP_001307594.1:p.Leu211Phe
NP_149017.2:p.Leu211Phe
NC_000015.9:g.73020324C>T
NR_045565.2:n.710C>T
NR_045566.2:n.965C>T

Protein change:

L211F

Links:

dbSNP: rs1567426035

NCBI 1000 Genomes Browser:

rs1567426035

Molecular consequence:

NM_001252678.2:c.115C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001320665.2:c.631C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_033028.5:c.631C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_045565.2:n.710C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_045566.2:n.965C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: BBS4-related disorder
Synonyms:: BBS4-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004779817	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Feb 12, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004779817

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Feb 12, 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, SCV004779817.2

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

Description

The BBS4 c.631C>T variant is predicted to result in the amino acid substitution p.Leu211Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) 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 8, 2024

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