NM_022124.6(CDH23):c.3431-6A>T AND not specified

Clinical significance:Likely benign (Last evaluated: May 27, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000221627.2

Allele description [Variation Report for NM_022124.6(CDH23):c.3431-6A>T]

NM_022124.6(CDH23):c.3431-6A>T

Genes:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
C10orf105:chromosome 10 open reading frame 105 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.3431-6A>T
HGVS:
  • NC_000010.11:g.71725366A>T
  • NG_008835.1:g.333420A>T
  • NM_001168390.2:c.-5-9024T>A
  • NM_001171930.2:c.3431-6A>T
  • NM_022124.6:c.3431-6A>TMANE SELECT
  • NC_000010.10:g.73485123A>T
  • NM_022124.5:c.3431-6A>T
Links:
dbSNP: rs377614198
NCBI 1000 Genomes Browser:
rs377614198
Molecular consequence:
  • NM_001168390.2:c.-5-9024T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171930.2:c.3431-6A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022124.6:c.3431-6A>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV000270036Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(May 27, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000270036.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

c.3431-6A>T in intron 29 of CDH23: This variant is not expected to have clinical significance because a thymine "T" at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. It has be en identified in 5/9778 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs377614198).

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

Last Updated: Jul 7, 2021

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