11-65599643-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_002419.4(MAP3K11):c.1957G>A(p.Ala653Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000234 in 1,536,402 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002419.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAP3K11 | NM_002419.4 | c.1957G>A | p.Ala653Thr | missense_variant | Exon 9 of 10 | ENST00000309100.8 | NP_002410.1 | |
MAP3K11 | XM_047426962.1 | c.*36G>A | 3_prime_UTR_variant | Exon 10 of 10 | XP_047282918.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000644 AC: 9AN: 139724Hom.: 0 AF XY: 0.0000896 AC XY: 7AN XY: 78086
GnomAD4 exome AF: 0.0000137 AC: 19AN: 1384260Hom.: 0 Cov.: 34 AF XY: 0.0000161 AC XY: 11AN XY: 684196
GnomAD4 genome AF: 0.000112 AC: 17AN: 152142Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1957G>A (p.A653T) alteration is located in exon 9 (coding exon 9) of the MAP3K11 gene. This alteration results from a G to A substitution at nucleotide position 1957, causing the alanine (A) at amino acid position 653 to be replaced by a threonine (T). 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