chr17-56594293-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_005450.6(NOG):c.70C>T(p.Pro24Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000131 in 1,612,480 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P24Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_005450.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000263 AC: 40AN: 152184Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000319 AC: 76AN: 238200Hom.: 1 AF XY: 0.000284 AC XY: 37AN XY: 130346
GnomAD4 exome AF: 0.000118 AC: 172AN: 1460188Hom.: 0 Cov.: 32 AF XY: 0.000116 AC XY: 84AN XY: 726418
GnomAD4 genome AF: 0.000263 AC: 40AN: 152292Hom.: 0 Cov.: 33 AF XY: 0.000389 AC XY: 29AN XY: 74472
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at