NM_198506.5(LRIT3):c.269dup (p.Tyr90Ter) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 27, 2024
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:: RCV004795306.1

Allele description [Variation Report for NM_198506.5(LRIT3):c.269dup (p.Tyr90Ter)]

NM_198506.5(LRIT3):c.269dup (p.Tyr90Ter)

Gene:

LRIT3:leucine rich repeat, Ig-like and transmembrane domains 3 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_198506.5(LRIT3):c.269dup (p.Tyr90Ter)

Other names:

NC_000004.11:g.110772812dup; NP_940908.3:p.(Tyr90Ter)

HGVS:

NC_000004.12:g.109851656dup
NG_033249.1:g.8473dup
NM_198506.5:c.269dupMANE SELECT
NP_940908.3:p.Tyr90Ter
NC_000004.11:g.110772812dup

Protein change:

Y90*

Molecular consequence:

NM_198506.5:c.269dup - nonsense - [Sequence Ontology: SO:0001587]

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
SCV005415500	Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 27, 2024)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005415500

Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 27, 2024)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	9	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, SCV005415500.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	9	not provided	not provided	research	PubMed (1)

#	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		9	not provided	not provided	not provided

Last Updated: Nov 30, 2024

ClinVar

Relating variation to medicine