14-104774967-G-A
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_001382430.1(AKT1):c.604C>T(p.Leu202=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00698 in 1,612,822 control chromosomes in the GnomAD database, including 676 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. L202L) has been classified as Likely benign.
Frequency
Consequence
NM_001382430.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AKT1 | NM_001382430.1 | c.604C>T | p.Leu202= | synonymous_variant | 8/15 | ENST00000649815.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKT1 | ENST00000649815.2 | c.604C>T | p.Leu202= | synonymous_variant | 8/15 | NM_001382430.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0359 AC: 5461AN: 151982Hom.: 337 Cov.: 33
GnomAD3 exomes AF: 0.00969 AC: 2425AN: 250248Hom.: 146 AF XY: 0.00707 AC XY: 957AN XY: 135302
GnomAD4 exome AF: 0.00396 AC: 5791AN: 1460722Hom.: 339 Cov.: 31 AF XY: 0.00346 AC XY: 2513AN XY: 726678
GnomAD4 genome AF: 0.0359 AC: 5463AN: 152100Hom.: 337 Cov.: 33 AF XY: 0.0340 AC XY: 2531AN XY: 74368
ClinVar
Submissions by phenotype
not specified Benign:3
Benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Benign, no assertion criteria provided | clinical testing | Clinical Genetics, Academic Medical Center | - | - - |
Benign, no assertion criteria provided | clinical testing | Genome Diagnostics Laboratory, Amsterdam University Medical Center | - | - - |
Cowden syndrome 6 Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | KCCC/NGS Laboratory, Kuwait Cancer Control Center | Jul 07, 2023 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Apr 03, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at