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NM_206933.4(USH2A):c.3172C>A (p.Pro1058Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 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:
RCV002461720.1

Allele description [Variation Report for NM_206933.4(USH2A):c.3172C>A (p.Pro1058Thr)]

NM_206933.4(USH2A):c.3172C>A (p.Pro1058Thr)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3172C>A (p.Pro1058Thr)
HGVS:
  • NC_000001.11:g.216207417G>T
  • NG_009497.2:g.221032C>A
  • NM_007123.6:c.3172C>A
  • NM_206933.4:c.3172C>AMANE SELECT
  • NP_009054.6:p.Pro1058Thr
  • NP_996816.3:p.Pro1058Thr
  • NC_000001.10:g.216380759G>T
  • NM_206933.2:c.3172C>A
Protein change:
P1058T
Molecular consequence:
  • NM_007123.6:c.3172C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.3172C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002756675GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 16, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002756675.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Dec 3, 2022