17-63634724-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_203351.3(MAP3K3):āc.142A>Gā(p.Ser48Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000843 in 1,613,260 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_203351.3 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: 0.0000394 AC: 6AN: 152258Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000759 AC: 19AN: 250382Hom.: 0 AF XY: 0.0000887 AC XY: 12AN XY: 135322
GnomAD4 exome AF: 0.0000890 AC: 130AN: 1461002Hom.: 0 Cov.: 30 AF XY: 0.0000812 AC XY: 59AN XY: 726780
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74394
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.142A>G (p.S48G) alteration is located in exon 3 (coding exon 3) of the MAP3K3 gene. This alteration results from a A to G substitution at nucleotide position 142, causing the serine (S) at amino acid position 48 to be replaced by a glycine (G). 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