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NM_173477.5(USH1G):c.769C>T (p.Arg257Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2023
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:
RCV003261878.2

Allele description [Variation Report for NM_173477.5(USH1G):c.769C>T (p.Arg257Cys)]

NM_173477.5(USH1G):c.769C>T (p.Arg257Cys)

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.769C>T (p.Arg257Cys)
HGVS:
  • NC_000017.11:g.74920067G>A
  • NG_007882.2:g.8197C>T
  • NG_033062.2:g.793G>A
  • NM_001282489.3:c.460C>T
  • NM_173477.5:c.769C>TMANE SELECT
  • NP_001269418.1:p.Arg154Cys
  • NP_775748.2:p.Arg257Cys
  • LRG_1416t1:c.769C>T
  • LRG_1416:g.8197C>T
  • LRG_1416p1:p.Arg257Cys
  • NC_000017.10:g.72916162G>A
  • NM_173477.2:c.769C>T
Protein change:
R154C
Molecular consequence:
  • NM_001282489.3:c.460C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173477.5:c.769C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003975177Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 3, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003975177.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.769C>T (p.R257C) alteration is located in exon 2 (coding exon 2) of the USH1G gene. This alteration results from a C to T substitution at nucleotide position 769, causing the arginine (R) at amino acid position 257 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024