NM_173477.5(USH1G):c.717G>C (p.Lys239Asn) AND Usher syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 31, 2022
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:: RCV003389459.1

Allele description [Variation Report for NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)]

NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)

Gene:

USH1G:USH1 protein network component sans [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)

HGVS:

NC_000017.11:g.74920119C>G
NG_007882.2:g.8145G>C
NG_033062.2:g.845C>G
NM_001282489.3:c.408G>C
NM_173477.5:c.717G>CMANE SELECT
NP_001269418.1:p.Lys136Asn
NP_775748.2:p.Lys239Asn
LRG_1416t1:c.717G>C
LRG_1416:g.8145G>C
LRG_1416p1:p.Lys239Asn
NC_000017.10:g.72916214C>G
NG_033062.1:g.845C>G
NM_173477.2:c.717G>C

Protein change:

K136N

Links:

dbSNP: rs544952984

NCBI 1000 Genomes Browser:

rs544952984

Molecular consequence:

NM_001282489.3:c.408G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_173477.5:c.717G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Usher syndrome
Synonyms:: Usher Syndromes; Usher's syndrome
Identifiers:: MONDO: MONDO:0019501; MeSH: D052245; MedGen: C0271097; Orphanet: 886; OMIM: PS276900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003927077	SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 31, 2022)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003927077

SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 31, 2022)

unknown

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	unknown	yes	1	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 SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation, SCV003927077.1

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

Description

This variant was found along with a homozygous variant NC_000005.9:g.89947495dup.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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