The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

  • See Evidence submitted by expert panel for details.

Variant: NM_022124.6(CDH23):c.429+4G>A

CA137421

45941 (ClinVar)

Gene: CDH23
Condition: nonsyndromic genetic deafness
Inheritance Mode: Autosomal recessive inheritance
UUID: 985ca188-58f5-4375-b7cc-176c42ce0119
Approved on: 2020-01-15
Published on: 2020-05-29

HGVS expressions

NM_022124.6:c.429+4G>A
NM_022124.6(CDH23):c.429+4G>A
NM_001171930.1:c.429+4G>A
NM_001171931.1:c.429+4G>A
NM_001171932.1:c.429+4G>A
NM_022124.5:c.429+4G>A
NM_052836.3:c.429+4G>A
NR_120672.1:n.143+562C>T
NM_001171930.2:c.429+4G>A
NM_001171931.2:c.429+4G>A
NM_052836.4:c.429+4G>A
ENST00000224721.10:c.433G>A
ENST00000299366.11:c.429+4G>A
ENST00000398809.8:c.429+4G>A
ENST00000398842.7:c.252+4G>A
ENST00000461841.7:c.429+4G>A
ENST00000616684.4:c.429+4G>A
ENST00000622827.4:c.429+4G>A
NC_000010.11:g.71511216G>A
CM000672.2:g.71511216G>A
NC_000010.10:g.73270973G>A
CM000672.1:g.73270973G>A
NC_000010.9:g.72940979G>A
NG_008835.1:g.119270G>A
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Benign

Met criteria codes 3
BA1 BP4 BP7

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Hearing Loss VCEP
The filtering allele frequency of the c.429+4G>A variant in CDH23 is 1.13% for South Asian chromosomes by gnomAD v2.1.1, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1). This silent variant in CDH23 is not predicted by the computational prediction analysis using MaxEntScan to impact splicing (BP7, BP4). In summary, this variant meets criteria to be classified as benign based on the ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel (BA1, BP7, BP4).
Met criteria codes
BA1
The filtering allele frequency (95% CI) of this variant in gnomAD v2.1.1 is 0.01126 (376/30602) in South Asian chromosomes.
BP4
The variant is not highly conserved nor does it have an impact on splicing according to the predictors in Alamut.
BP7
The variant does not affect splicing according to the predictors in Alamut (including MaxEntScan) and the nucleotide is not highly conserved (PhyloP: 2.33).
Curation History
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