NM_173477.5(USH1G):c.832_851del (p.Ser278fs) AND Usher syndrome type 1G

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Nov 28, 2016
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:: RCV000003050.12

Allele description [Variation Report for NM_173477.5(USH1G):c.832_851del (p.Ser278fs)]

NM_173477.5(USH1G):c.832_851del (p.Ser278fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_173477.5(USH1G):c.832_851del (p.Ser278fs)

HGVS:

NC_000017.11:g.74919988_74920007del
NG_007882.2:g.8260_8279del
NG_033062.2:g.714_733del
NM_001282489.3:c.523_542del
NM_173477.5:c.832_851delMANE SELECT
NP_001269418.1:p.Ser175fs
NP_775748.2:p.Ser278fs
LRG_1416t1:c.832_851del
LRG_1416:g.8260_8279del
LRG_1416p1:p.Ser278fs
NC_000017.10:g.72916083_72916102del
NG_033062.1:g.714_733del
NM_173477.2:c.832_851del
NM_173477.3:c.832_851del20
NP_775748.2:p.Ser278ProfsTer71
c.828-849del20

Protein change:

S175fs

Links:

OMIM: 607696.0003; dbSNP: rs397515345

NCBI 1000 Genomes Browser:

rs397515345

Molecular consequence:

NM_001282489.3:c.523_542del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_173477.5:c.832_851del - 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
SCV000023208	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000087060	GeneReviews	no assertion criteria provided	pathologic (Jun 20, 2013)	not provided	curation
SCV000538130	Hereditary Research Laboratory, Bethlehem University	no assertion criteria provided	Pathogenic (Jun 4, 2016)	germline	research
SCV000782532	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 28, 2016)	biparental	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	germline	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	biparental	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C.

Hum Mol Genet. 2003 Mar 1;12(5):463-71.

PubMed [citation]

PMID:: 12588794

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 OMIM, SCV000023208.3

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

Description

In affected members of a consanguineous Jordanian family segregating Usher syndrome type IG (USH1G; 606943), Weil et al. (2003) identified homozygosity for a 20-bp deletion (nucleotides 829-848) in exon 2 of the SANS gene, predicting a truncated 326-amino acid protein containing 70 missense C-terminal residues and lacking the SAM domain.

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

From GeneReviews, SCV000087060.1

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

Description

Converted during submission to Pathogenic.

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

From Hereditary Research Laboratory, Bethlehem University, SCV000538130.1

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

Description

profound w/retinitis pigmentosum

#	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

From Mayo Clinic Laboratories, Mayo Clinic, SCV000782532.1

#	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	biparental	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 10, 2023

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