NM_152618.3(BBS12):c.1092del (p.Glu365fs) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 16, 2018
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:: RCV001073939.2

Allele description [Variation Report for NM_152618.3(BBS12):c.1092del (p.Glu365fs)]

NM_152618.3(BBS12):c.1092del (p.Glu365fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

4q27

Genomic location:

Preferred name:

NM_152618.3(BBS12):c.1092del (p.Glu365fs)

HGVS:

NC_000004.12:g.122742984del
NG_021203.1:g.15283del
NM_001178007.2:c.1092del
NM_152618.3:c.1092delMANE SELECT
NP_001171478.1:p.Glu365fs
NP_689831.2:p.Glu365fs
NC_000004.11:g.123664139del
NM_152618.2:c.1092del
NM_152618.2:c.1092delA

Protein change:

E365fs

Links:

dbSNP: rs770218590

NCBI 1000 Genomes Browser:

rs770218590

Molecular consequence:

NM_001178007.2:c.1092del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_152618.3:c.1092del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

Recent activity

Clear Turn Off Turn On

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
SCV001239504	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Jul 16, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239504

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Jul 16, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Blueprint Genetics, SCV001239504.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine