chr3-185437579-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_004721.5(MAP3K13):c.608C>T(p.Thr203Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000744 in 1,612,770 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004721.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151044Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461726Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727160
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151044Hom.: 0 Cov.: 30 AF XY: 0.0000136 AC XY: 1AN XY: 73574
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.608C>T (p.T203M) alteration is located in exon 3 (coding exon 2) of the MAP3K13 gene. This alteration results from a C to T substitution at nucleotide position 608, causing the threonine (T) at amino acid position 203 to be replaced by a methionine (M). 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