rs202164310
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006387.6(CHERP):c.2378G>T(p.Arg793Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,162 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R793H) has been classified as Uncertain significance.
Frequency
Consequence
NM_006387.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CHERP | NM_006387.6 | c.2378G>T | p.Arg793Leu | missense_variant | Exon 15 of 17 | ENST00000546361.7 | NP_006378.3 | |
C19orf44 | NM_032207.4 | c.*180C>A | 3_prime_UTR_variant | Exon 9 of 9 | ENST00000221671.8 | NP_115583.1 | ||
C19orf44 | XM_006722920.5 | c.*180C>A | 3_prime_UTR_variant | Exon 8 of 8 | XP_006722983.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CHERP | ENST00000546361.7 | c.2378G>T | p.Arg793Leu | missense_variant | Exon 15 of 17 | 1 | NM_006387.6 | ENSP00000439856.2 | ||
C19orf44 | ENST00000221671.8 | c.*180C>A | 3_prime_UTR_variant | Exon 9 of 9 | 2 | NM_032207.4 | ENSP00000221671.2 | |||
ENSG00000141979 | ENST00000409035.1 | n.*194-881G>T | intron_variant | Intron 6 of 11 | 2 | ENSP00000386951.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461162Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726908
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at