6-161034363-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_005922.4(MAP3K4):c.257C>G(p.Pro86Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000329 in 1,613,764 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005922.4 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: 0.000263 AC: 40AN: 152032Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000386 AC: 97AN: 251290Hom.: 0 AF XY: 0.000427 AC XY: 58AN XY: 135804
GnomAD4 exome AF: 0.000336 AC: 491AN: 1461732Hom.: 2 Cov.: 31 AF XY: 0.000375 AC XY: 273AN XY: 727164
GnomAD4 genome AF: 0.000263 AC: 40AN: 152032Hom.: 0 Cov.: 32 AF XY: 0.000296 AC XY: 22AN XY: 74276
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.257C>G (p.P86R) alteration is located in exon 2 (coding exon 2) of the MAP3K4 gene. This alteration results from a C to G substitution at nucleotide position 257, causing the proline (P) at amino acid position 86 to be replaced by an arginine (R). 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