NM_001257.5:c.206C>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001257.5(CDH13):āc.206C>Gā(p.Ser69Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000236 in 1,609,368 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001257.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152184Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000207 AC: 5AN: 241530Hom.: 0 AF XY: 0.0000153 AC XY: 2AN XY: 130692
GnomAD4 exome AF: 0.0000117 AC: 17AN: 1457066Hom.: 0 Cov.: 29 AF XY: 0.00000967 AC XY: 7AN XY: 724206
GnomAD4 genome AF: 0.000138 AC: 21AN: 152302Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74466
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.206C>G (p.S69W) alteration is located in exon 3 (coding exon 3) of the CDH13 gene. This alteration results from a C to G substitution at nucleotide position 206, causing the serine (S) at amino acid position 69 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at