NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Apr 7, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041427.4

Allele description [Variation Report for NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)]

NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)

Genes:
USH1G:USH1 protein network component sans [Gene - OMIM - HGNC]
OTOP2:otopetrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)
HGVS:
  • NC_000017.11:g.74922991G>A
  • NG_007882.2:g.5273C>T
  • NG_033062.1:g.3717G>A
  • NG_033062.2:g.3717G>A
  • NM_001282489.3:c.-174C>T
  • NM_173477.5:c.83C>TMANE SELECT
  • NP_775748.2:p.Pro28Leu
  • LRG_1416t1:c.83C>T
  • LRG_1416:g.5273C>T
  • LRG_1416p1:p.Pro28Leu
  • NC_000017.10:g.72919086G>A
  • NM_173477.2:c.83C>T
  • NM_173477.4:c.83C>T
  • c.83C>T
Protein change:
P28L
Links:
dbSNP: rs145448362
NCBI 1000 Genomes Browser:
rs145448362
Molecular consequence:
  • NM_001282489.3:c.-174C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_173477.5:c.83C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000065122Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Apr 7, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown43not providednot providednot providedclinical testing

Citations

PubMed

Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.

Aller E, Jaijo T, Beneyto M, Nájera C, Morera C, Pérez-Garrigues H, Ayuso C, Millán J.

Ophthalmic Genet. 2007 Sep;28(3):151-5.

PubMed [citation]
PMID:
17896313

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, Kroes HY, Lelieveld SH, Hehir-Kwa JY, Castelein S, Nelen M, Scheffer H, Lugtenberg D, et al.

Eur J Hum Genet. 2017 May;25(5):591-599. doi: 10.1038/ejhg.2017.9. Epub 2017 Feb 22.

PubMed [citation]
PMID:
28224992
PMCID:
PMC5437915
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000065122.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (3)

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Pro28Leu variant in USH1G has been reported in the heterozygous state in two individuals with Usher syndrome type 2 (Aller 2007), one individual with retinitis pigmentosa (Haer-Wigman, 2017), and three children with apparently nonsyndromic hearing loss (LMM data). It has also been identified in 0.15% (138/91578) of Europeans chromosomes by gnomAD (http://gnomad.broadinstitute.org) and has been reported as likely benign by a clinical lab in ClinVar (Variation ID 48139). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of this variant is uncertain, its frequency suggests that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not provided3not provided

Last Updated: Nov 27, 2021

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