10-29458448-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021738.3(SVIL):c.6544G>A(p.Asp2182Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000645 in 1,582,560 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021738.3 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: 0.000296 AC: 45AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000116 AC: 26AN: 225054Hom.: 0 AF XY: 0.000133 AC XY: 16AN XY: 120324
GnomAD4 exome AF: 0.0000399 AC: 57AN: 1430210Hom.: 0 Cov.: 32 AF XY: 0.0000382 AC XY: 27AN XY: 707610
GnomAD4 genome AF: 0.000295 AC: 45AN: 152350Hom.: 0 Cov.: 33 AF XY: 0.000201 AC XY: 15AN XY: 74504
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.6544G>A (p.D2182N) alteration is located in exon 37 (coding exon 34) of the SVIL gene. This alteration results from a G to A substitution at nucleotide position 6544, causing the aspartic acid (D) at amino acid position 2182 to be replaced by an asparagine (N). 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