NM_022124.6(CDH23):c.*349A>G AND Nonsyndromic Hearing Loss, Recessive

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000407454.2

Allele description [Variation Report for NM_022124.6(CDH23):c.*349A>G]

NM_022124.6(CDH23):c.*349A>G

Genes:
PSAP:prosaposin [Gene - OMIM - HGNC]
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.*349A>G
HGVS:
  • NC_000010.11:g.71815627A>G
  • NG_008835.1:g.423681A>G
  • NG_009301.1:g.40699T>C
  • NM_001171933.1:c.*349A>G
  • NM_001171934.1:c.*349A>G
  • NM_001171935.1:c.*349A>G
  • NM_001171936.1:c.*349A>G
  • NM_022124.6:c.*349A>GMANE SELECT
  • NC_000010.10:g.73575384A>G
  • NM_022124.5:c.*349A>G
Links:
dbSNP: rs1867978
NCBI 1000 Genomes Browser:
rs1867978
Molecular consequence:
  • NM_001171933.1:c.*349A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001171934.1:c.*349A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001171935.1:c.*349A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001171936.1:c.*349A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_022124.6:c.*349A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Nonsyndromic Hearing Loss, Recessive
Identifiers:
MedGen: CN239439

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000363992Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000363992.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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