5-140194584-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032412.4(CYSTM1):c.119G>C(p.Gly40Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000992 in 1,613,406 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032412.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152044Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 250916Hom.: 1 AF XY: 0.0000221 AC XY: 3AN XY: 135638
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461362Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727008
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152044Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74266
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.119G>C (p.G40A) alteration is located in exon 2 (coding exon 1) of the CYSTM1 gene. This alteration results from a G to C substitution at nucleotide position 119, causing the glycine (G) at amino acid position 40 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