11-65599489-T-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002419.4(MAP3K11):āc.2111A>Gā(p.Asp704Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000535 in 1,496,254 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002419.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAP3K11 | NM_002419.4 | c.2111A>G | p.Asp704Gly | missense_variant | 9/10 | ENST00000309100.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAP3K11 | ENST00000309100.8 | c.2111A>G | p.Asp704Gly | missense_variant | 9/10 | 1 | NM_002419.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000665 AC: 1AN: 150436Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000131 AC: 2AN: 152598Hom.: 0 AF XY: 0.0000231 AC XY: 2AN XY: 86558
GnomAD4 exome AF: 0.00000520 AC: 7AN: 1345818Hom.: 0 Cov.: 34 AF XY: 0.00000603 AC XY: 4AN XY: 663742
GnomAD4 genome AF: 0.00000665 AC: 1AN: 150436Hom.: 0 Cov.: 32 AF XY: 0.0000136 AC XY: 1AN XY: 73388
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at