10-72063048-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001244950.2(SPOCK2):c.1106G>A(p.Arg369His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000142 in 1,553,668 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001244950.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000190 AC: 3AN: 157870Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 83256
GnomAD4 exome AF: 0.0000114 AC: 16AN: 1401330Hom.: 0 Cov.: 73 AF XY: 0.0000130 AC XY: 9AN XY: 691480
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152338Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1106G>A (p.R369H) alteration is located in exon 11 (coding exon 10) of the SPOCK2 gene. This alteration results from a G to A substitution at nucleotide position 1106, causing the arginine (R) at amino acid position 369 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