rs370967218
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6_ModerateBS2
The NM_004933.3(CDH15):āc.2159A>Cā(p.Glu720Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000135 in 1,603,704 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_004933.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDH15 | NM_004933.3 | c.2159A>C | p.Glu720Ala | missense_variant | 14/14 | ENST00000289746.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDH15 | ENST00000289746.3 | c.2159A>C | p.Glu720Ala | missense_variant | 14/14 | 1 | NM_004933.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000105 AC: 16AN: 151992Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000114 AC: 27AN: 236078Hom.: 0 AF XY: 0.000109 AC XY: 14AN XY: 128090
GnomAD4 exome AF: 0.000138 AC: 201AN: 1451712Hom.: 0 Cov.: 31 AF XY: 0.000128 AC XY: 92AN XY: 721310
GnomAD4 genome ? AF: 0.000105 AC: 16AN: 151992Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74242
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Aug 12, 2014 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at