chr19-40235026-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The ENST00000579047.5(AKT2):c.1199C>T(p.Pro400Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000597 in 1,608,624 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/11 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. P400P) has been classified as Likely benign.
Frequency
Consequence
ENST00000579047.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AKT2 | NM_001626.6 | c.1366+19C>T | intron_variant | ENST00000392038.7 | |||
AKT2 | NM_001243027.3 | c.1180+19C>T | intron_variant | ||||
AKT2 | NM_001243028.3 | c.1180+19C>T | intron_variant | ||||
AKT2 | NM_001330511.1 | c.1237+19C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKT2 | ENST00000392038.7 | c.1366+19C>T | intron_variant | 1 | NM_001626.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000322 AC: 49AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000104 AC: 26AN: 250662Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135678
GnomAD4 exome AF: 0.0000330 AC: 48AN: 1456314Hom.: 0 Cov.: 30 AF XY: 0.0000400 AC XY: 29AN XY: 724872
GnomAD4 genome AF: 0.000315 AC: 48AN: 152310Hom.: 0 Cov.: 32 AF XY: 0.000322 AC XY: 24AN XY: 74468
ClinVar
Submissions by phenotype
Type 2 diabetes mellitus;C3278384:Hypoinsulinemic hypoglycemia and body hemihypertrophy Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Sep 26, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at