rs368873892
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_002401.5(MAP3K3):c.833G>A(p.Arg278His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000489 in 1,614,066 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002401.5 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: 0.0000789 AC: 12AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000994 AC: 25AN: 251462Hom.: 0 AF XY: 0.000110 AC XY: 15AN XY: 135906
GnomAD4 exome AF: 0.0000458 AC: 67AN: 1461808Hom.: 0 Cov.: 30 AF XY: 0.0000578 AC XY: 42AN XY: 727218
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.926G>A (p.R309H) alteration is located in exon 11 (coding exon 11) of the MAP3K3 gene. This alteration results from a G to A substitution at nucleotide position 926, causing the arginine (R) at amino acid position 309 to be replaced by a histidine (H). 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