1-168728927-C-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 2P and 12B. PM2BP4_StrongBP6_Very_Strong
The NM_001937.5(DPT):c.248G>T(p.Ser83Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000358 in 1,614,208 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001937.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00187 AC: 284AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000614 AC: 154AN: 250862Hom.: 0 AF XY: 0.000501 AC XY: 68AN XY: 135642
GnomAD4 exome AF: 0.000202 AC: 295AN: 1461892Hom.: 0 Cov.: 31 AF XY: 0.000193 AC XY: 140AN XY: 727248
GnomAD4 genome AF: 0.00186 AC: 283AN: 152316Hom.: 0 Cov.: 32 AF XY: 0.00162 AC XY: 121AN XY: 74486
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at