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

Clinical significance:Pathogenic (Last evaluated: Nov 28, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000003050.9

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_033062.1:g.714_733del
  • 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
  • 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 (USH1G)
Synonyms:
USHER SYNDROME, TYPE IG, MILD
Identifiers:
MONDO: MONDO:0011748; MedGen: C1847089; Orphanet: 231169; Orphanet: 886; OMIM: 606943

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023208OMIMno assertion criteria providedPathogenic
(Mar 1, 2003)
germlineliterature only

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

SCV000087060GeneReviewsno assertion criteria providedpathologic
(Jun 20, 2013)
not providedcuration

SCV000538130Hereditary Research Laboratory, Bethlehem Universityno assertion criteria providedPathogenic
(Jun 4, 2016)
germlineresearch

SCV000782532Mayo Clinic Laboratories,Mayo Cliniccriteria provided, single submitter
Pathogenic
(Nov 28, 2016)
biparentalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedbiparentalunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot providednot providednot providedcuration
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From GeneReviews, SCV000087060.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Hereditary Research Laboratory, Bethlehem University, SCV000538130.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

profound w/retinitis pigmentosum

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Mayo Clinic Laboratories,Mayo Clinic, SCV000782532.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 2, 2021

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