1-35110384-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024772.5(ZMYM1):c.898G>C(p.Glu300Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000941 in 1,593,436 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024772.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000427 AC: 1AN: 233978Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 127498
GnomAD4 exome AF: 0.00000902 AC: 13AN: 1441288Hom.: 0 Cov.: 30 AF XY: 0.0000112 AC XY: 8AN XY: 716940
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.898G>C (p.E300Q) alteration is located in exon 7 (coding exon 6) of the ZMYM1 gene. This alteration results from a G to C substitution at nucleotide position 898, causing the glutamic acid (E) at amino acid position 300 to be replaced by a glutamine (Q). 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