NM_031885.5(BBS2):c.367A>G (p.Ile123Val) AND Retinal dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 1, 2023
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:: RCV003888665.1

Allele description [Variation Report for NM_031885.5(BBS2):c.367A>G (p.Ile123Val)]

NM_031885.5(BBS2):c.367A>G (p.Ile123Val)

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.367A>G (p.Ile123Val)

HGVS:

NC_000016.10:g.56511263T>C
NG_009312.2:g.13762A>G
NM_001377456.1:c.367A>G
NM_031885.5:c.367A>GMANE SELECT
NP_001364385.1:p.Ile123Val
NP_114091.3:p.Ile123Val
NP_114091.4:p.Ile123Val
NC_000016.9:g.56545175T>C
NG_009312.1:g.14021A>G
NM_031885.2:c.367A>G
NM_031885.3:c.367A>G
NM_031885.4:c.367A>G
NR_165293.1:n.529A>G
NR_165294.1:n.529A>G
NR_165295.1:n.529A>G
NR_165296.1:n.529A>G
NR_165297.1:n.529A>G

Protein change:

I123V

Links:

dbSNP: rs11373

NCBI 1000 Genomes Browser:

rs11373

Molecular consequence:

NM_001377456.1:c.367A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_031885.5:c.367A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_165293.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165294.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165295.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165296.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165297.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004705078	Dept Of Ophthalmology, Nagoya University	criteria provided, single submitter (Submitter's publication)	Uncertain significance (Oct 1, 2023)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004705078

Dept Of Ophthalmology, Nagoya University

criteria provided, single submitter

(Submitter's publication)

Uncertain significance
(Oct 1, 2023)

germline

research

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	research

Details of each submission

From Dept Of Ophthalmology, Nagoya University, SCV004705078.1

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

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