rs778376616
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 3P and 16B. PM2PP2BP4_StrongBP6_Very_StrongBS1
The NM_001382430.1(AKT1):c.406G>A(p.Val136Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000818 in 1,613,928 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001382430.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AKT1 | NM_001382430.1 | c.406G>A | p.Val136Met | missense_variant | 6/15 | ENST00000649815.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKT1 | ENST00000649815.2 | c.406G>A | p.Val136Met | missense_variant | 6/15 | NM_001382430.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152146Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000111 AC: 28AN: 251294Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135832
GnomAD4 exome AF: 0.0000759 AC: 111AN: 1461782Hom.: 1 Cov.: 32 AF XY: 0.0000811 AC XY: 59AN XY: 727210
GnomAD4 genome AF: 0.000138 AC: 21AN: 152146Hom.: 0 Cov.: 33 AF XY: 0.000175 AC XY: 13AN XY: 74316
ClinVar
Submissions by phenotype
Cowden syndrome 6 Benign:2
Benign, criteria provided, single submitter | clinical testing | Mendelics | Aug 22, 2023 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 06, 2023 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jul 01, 2023 | AKT1: BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at