17-48936186-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM1BP4_StrongBS2
The NM_007241.4(SNF8):c.406G>A(p.Ala136Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000113 in 1,613,706 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007241.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000207 AC: 52AN: 251442Hom.: 1 AF XY: 0.000221 AC XY: 30AN XY: 135902
GnomAD4 exome AF: 0.000117 AC: 171AN: 1461454Hom.: 4 Cov.: 29 AF XY: 0.000157 AC XY: 114AN XY: 727058
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152252Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74446
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.406G>A (p.A136T) alteration is located in exon 5 (coding exon 5) of the SNF8 gene. This alteration results from a G to A substitution at nucleotide position 406, causing the alanine (A) at amino acid position 136 to be replaced by a threonine (T). 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