7-105996345-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_152750.5(CDHR3):c.704G>A(p.Arg235His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000503 in 1,589,744 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R235C) has been classified as Uncertain significance.
Frequency
Consequence
NM_152750.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDHR3 | NM_152750.5 | c.704G>A | p.Arg235His | missense_variant | 6/19 | ENST00000317716.14 | |
CDHR3 | NM_001301161.2 | c.440G>A | p.Arg147His | missense_variant | 5/18 | ||
LOC107986833 | XR_001745316.2 | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDHR3 | ENST00000317716.14 | c.704G>A | p.Arg235His | missense_variant | 6/19 | 1 | NM_152750.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000243 AC: 37AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000224 AC: 53AN: 236980Hom.: 0 AF XY: 0.000272 AC XY: 35AN XY: 128624
GnomAD4 exome AF: 0.000531 AC: 763AN: 1437448Hom.: 0 Cov.: 29 AF XY: 0.000514 AC XY: 365AN XY: 710514
GnomAD4 genome ? AF: 0.000243 AC: 37AN: 152296Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74462
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 04, 2022 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at