rs113278485
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_Strong
The NM_003954.5(MAP3K14):āc.880A>Gā(p.Lys294Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,792 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/15 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. K294Q) has been classified as Likely benign.
Frequency
Consequence
NM_003954.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAP3K14 | NM_003954.5 | c.880A>G | p.Lys294Glu | missense_variant | 5/16 | ENST00000344686.8 | |
MAP3K14 | XM_047436997.1 | c.880A>G | p.Lys294Glu | missense_variant | 5/15 | ||
MAP3K14 | XM_047436998.1 | c.880A>G | p.Lys294Glu | missense_variant | 6/16 | ||
MAP3K14 | XM_011525441.3 | c.880A>G | p.Lys294Glu | missense_variant | 6/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAP3K14 | ENST00000344686.8 | c.880A>G | p.Lys294Glu | missense_variant | 5/16 | 1 | NM_003954.5 | P1 | |
MAP3K14 | ENST00000376926.8 | c.880A>G | p.Lys294Glu | missense_variant | 4/15 | 1 | P1 | ||
MAP3K14 | ENST00000617331.3 | c.880A>G | p.Lys294Glu | missense_variant | 6/17 | 5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000416 AC: 1AN: 240214Hom.: 0 AF XY: 0.00000768 AC XY: 1AN XY: 130292
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457792Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 724698
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at