17-40140775-A-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_007359.5(CASC3):c.227A>C(p.Glu76Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000103 in 1,069,988 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar 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 -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CASC3 | NM_007359.5 | c.227A>C | p.Glu76Ala | missense_variant | Exon 1 of 14 | ENST00000264645.12 | NP_031385.2 | |
CASC3 | XM_005257163.3 | c.227A>C | p.Glu76Ala | missense_variant | Exon 1 of 14 | XP_005257220.1 | ||
CASC3 | XM_047435623.1 | c.227A>C | p.Glu76Ala | missense_variant | Exon 1 of 9 | XP_047291579.1 | ||
CASC3 | XM_047435624.1 | c.-739A>C | 5_prime_UTR_variant | Exon 1 of 15 | XP_047291580.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000127 AC: 1AN: 78500Hom.: 0 Cov.: 20
GnomAD4 exome AF: 0.0000101 AC: 10AN: 991488Hom.: 0 Cov.: 33 AF XY: 0.00000841 AC XY: 4AN XY: 475498
GnomAD4 genome AF: 0.0000127 AC: 1AN: 78500Hom.: 0 Cov.: 20 AF XY: 0.0000282 AC XY: 1AN XY: 35512
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.227A>C (p.E76A) alteration is located in exon 1 (coding exon 1) of the CASC3 gene. This alteration results from a A to C substitution at nucleotide position 227, causing the glutamic acid (E) at amino acid position 76 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at