17-63910486-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_022579.3(CSHL1):āc.240G>Cā(p.Gln80His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000712 in 1,614,046 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 (ā ).
Frequency
Consequence
NM_022579.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000207 AC: 52AN: 251490Hom.: 0 AF XY: 0.000191 AC XY: 26AN XY: 135918
GnomAD4 exome AF: 0.0000691 AC: 101AN: 1461888Hom.: 0 Cov.: 83 AF XY: 0.0000674 AC XY: 49AN XY: 727244
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.240G>C (p.Q80H) alteration is located in exon 3 (coding exon 3) of the CSHL1 gene. This alteration results from a G to C substitution at nucleotide position 240, causing the glutamine (Q) at amino acid position 80 to be replaced by a histidine (H). 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