NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del) AND BBS12-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 21, 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:: RCV003420177.6

Allele description [Variation Report for NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)]

NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)

Gene:

BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

4q27

Genomic location:

Preferred name:

NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)

HGVS:

NC_000004.12:g.122742752AAG[1]
NG_021203.1:g.15051AAG[1]
NM_001178007.2:c.860AAG[1]
NM_152618.3:c.860AAG[1]MANE SELECT
NP_001171478.1:p.Glu288del
NP_689831.2:p.Glu288del
NC_000004.11:g.123663905_123663907del
NC_000004.11:g.123663907AAG[1]
NM_152618.2:c.863_865del
NM_152618.2:c.863_865delAAG
NM_152618.3:c.863_865delMANE SELECT

Protein change:

E288del

Links:

dbSNP: rs745504524

NCBI 1000 Genomes Browser:

rs745504524

Molecular consequence:

NM_001178007.2:c.860AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_152618.3:c.860AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: BBS12-related disorder
Synonyms:: BBS12-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004114870	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Feb 21, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004114870

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Feb 21, 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, SCV004114870.3

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

Description

The BBS12 c.863_865delAAG variant is predicted to result in an in-frame deletion (p.Glu288del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% 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

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