NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly) AND Retinitis pigmentosa

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 9, 2020
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:: RCV001199574.1

Allele description [Variation Report for NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly)]

NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly)

HGVS:

NC_000001.11:g.215675493A>C
NG_009497.1:g.752904T>G
NG_009497.2:g.752956T>G
NM_206933.4:c.12418T>GMANE SELECT
NP_996816.3:p.Cys4140Gly
NC_000001.10:g.215848835A>C
NM_206933.2:c.12418T>G

Protein change:

C4140G

Links:

dbSNP: rs1657992030

NCBI 1000 Genomes Browser:

rs1657992030

Molecular consequence:

NM_206933.4:c.12418T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa (RP)
Synonyms:: Tapetoretinal degeneration
Identifiers:: MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

Recent activity

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Mus musculus tubulin tyrosine ligase-like family, member 6 (Ttll6), mRNA
Mus musculus tubulin tyrosine ligase-like family, member 6 (Ttll6), mRNA
gi|282847335|ref|NM_172799.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001162720	Molecular Genetics Laboratory, Institute for Ophthalmic Research	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 9, 2020)	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

SCV001162720

Molecular Genetics Laboratory, Institute for Ophthalmic Research

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 9, 2020)

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	not provided	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 Molecular Genetics Laboratory, Institute for Ophthalmic Research, SCV001162720.1

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

Last Updated: Apr 23, 2022

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