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NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 11, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000041947.5

Allele description [Variation Report for NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter)]

NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter)
HGVS:
  • NC_000001.11:g.215838058G>A
  • NG_009497.2:g.590391C>T
  • NM_206933.4:c.9304C>TMANE SELECT
  • NP_996816.3:p.Gln3102Ter
  • NC_000001.10:g.216011400G>A
  • NG_009497.1:g.590339C>T
  • NM_206933.2:c.9304C>T
  • c.9304C>T
  • p.Gln3102X
Protein change:
Q3102*
Links:
dbSNP: rs397518046
NCBI 1000 Genomes Browser:
rs397518046
Molecular consequence:
  • NM_206933.4:c.9304C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000065643Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
no assertion criteria provided
Pathogenic
(Mar 11, 2013) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000065643.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

The Gln3102X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. This nonsense variant leads to a premature te rmination codon at position 3102, which is predicted to lead to a truncated or a bsent protein. In summary, this variant meets our criteria to be classified as p athogenic (http://pcpgm.partners.org/LMM).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Feb 28, 2024