NM_002446.4:c.56C>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002446.4(MAP3K10):c.56C>T(p.Pro19Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002446.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAP3K10 | NM_002446.4 | c.56C>T | p.Pro19Leu | missense_variant | Exon 1 of 10 | ENST00000253055.8 | NP_002437.2 | |
MAP3K10 | XM_011526981.3 | c.56C>T | p.Pro19Leu | missense_variant | Exon 1 of 10 | XP_011525283.1 | ||
MAP3K10 | XM_011526982.4 | c.56C>T | p.Pro19Leu | missense_variant | Exon 1 of 10 | XP_011525284.1 | ||
MAP3K10 | XM_047438844.1 | c.56C>T | p.Pro19Leu | missense_variant | Exon 1 of 9 | XP_047294800.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1367500Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 672186
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.56C>T (p.P19L) alteration is located in exon 1 (coding exon 1) of the MAP3K10 gene. This alteration results from a C to T substitution at nucleotide position 56, causing the proline (P) at amino acid position 19 to be replaced by a leucine (L). 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