NM_007359.5:c.76G>C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_007359.5(CASC3):āc.76G>Cā(p.Gly26Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000373 in 1,610,646 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. G26S) has been classified as Uncertain significance.
Frequency
Consequence
NM_007359.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CASC3 | NM_007359.5 | c.76G>C | p.Gly26Arg | missense_variant | Exon 1 of 14 | ENST00000264645.12 | NP_031385.2 | |
CASC3 | XM_005257163.3 | c.76G>C | p.Gly26Arg | missense_variant | Exon 1 of 14 | XP_005257220.1 | ||
CASC3 | XM_047435623.1 | c.76G>C | p.Gly26Arg | missense_variant | Exon 1 of 9 | XP_047291579.1 | ||
CASC3 | XM_047435624.1 | c.-890G>C | 5_prime_UTR_variant | Exon 1 of 15 | XP_047291580.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152102Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000127 AC: 3AN: 235530Hom.: 0 AF XY: 0.0000231 AC XY: 3AN XY: 130120
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1458544Hom.: 0 Cov.: 34 AF XY: 0.00000689 AC XY: 5AN XY: 725606
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152102Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 74300
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at