rs7108757
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_021924.5(CDHR5):c.2059G>A(p.Ala687Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.216 in 1,610,710 control chromosomes in the GnomAD database, including 39,855 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_021924.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDHR5 | NM_021924.5 | c.2059G>A | p.Ala687Thr | missense_variant | 14/15 | ENST00000397542.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDHR5 | ENST00000397542.7 | c.2059G>A | p.Ala687Thr | missense_variant | 14/15 | 1 | NM_021924.5 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.222 AC: 33697AN: 151892Hom.: 3906 Cov.: 32
GnomAD3 exomes AF: 0.196 AC: 48179AN: 245240Hom.: 5343 AF XY: 0.189 AC XY: 25208AN XY: 133380
GnomAD4 exome AF: 0.216 AC: 314968AN: 1458700Hom.: 35949 Cov.: 38 AF XY: 0.212 AC XY: 153841AN XY: 725696
GnomAD4 genome ? AF: 0.222 AC: 33717AN: 152010Hom.: 3906 Cov.: 32 AF XY: 0.213 AC XY: 15846AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at