NM_173477.5(USH1G):c.1004dup (p.Leu336fs) AND Usher syndrome type 1G

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 14, 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:: RCV002497446.1

Allele description [Variation Report for NM_173477.5(USH1G):c.1004dup (p.Leu336fs)]

NM_173477.5(USH1G):c.1004dup (p.Leu336fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_173477.5(USH1G):c.1004dup (p.Leu336fs)

HGVS:

NC_000017.11:g.74919836dup
NG_007882.2:g.8432dup
NG_033062.2:g.562dup
NM_001282489.3:c.695dup
NM_173477.5:c.1004dupMANE SELECT
NP_001269418.1:p.Leu233fs
NP_775748.2:p.Leu336fs
LRG_1416t1:c.1004dup
LRG_1416:g.8432dup
LRG_1416p1:p.Leu336fs
NC_000017.10:g.72915926_72915927insC
NC_000017.10:g.72915931dup
NG_033062.1:g.562dup
NM_173477.4:c.1004dup

Protein change:

L233fs

Links:

dbSNP: rs1359109336

NCBI 1000 Genomes Browser:

rs1359109336

Molecular consequence:

NM_001282489.3:c.695dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_173477.5:c.1004dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Usher syndrome type 1G
Synonyms:: USHER SYNDROME, TYPE IG, MILD
Identifiers:: MONDO: MONDO:0011748; MedGen: C1847089; Orphanet: 231169; Orphanet: 886; OMIM: 606943

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002810944	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 14, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002810944

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 14, 2022)

unknown

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Fulgent Genetics, Fulgent Genetics, SCV002810944.1

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

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

Last Updated: Sep 29, 2024

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