rs56160159
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM2PM5BP4
The NM_005921.2(MAP3K1):c.770C>A(p.Pro257Gln) 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. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P257L) has been classified as Uncertain significance.
Frequency
Consequence
NM_005921.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAP3K1 | NM_005921.2 | c.770C>A | p.Pro257Gln | missense_variant | 3/20 | ENST00000399503.4 | |
MAP3K1 | XM_047417218.1 | c.770C>A | p.Pro257Gln | missense_variant | 3/18 | ||
MAP3K1 | XM_047417219.1 | c.359C>A | p.Pro120Gln | missense_variant | 4/21 | ||
MAP3K1 | XM_047417220.1 | c.359C>A | p.Pro120Gln | missense_variant | 4/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAP3K1 | ENST00000399503.4 | c.770C>A | p.Pro257Gln | missense_variant | 3/20 | 1 | NM_005921.2 | P1 | |
ENST00000415589.1 | n.154G>T | non_coding_transcript_exon_variant | 2/4 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.