rs144088506
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_001382430.1(AKT1):c.1020C>T(p.Tyr340Tyr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00361 in 1,614,134 control chromosomes in the GnomAD database, including 17 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001382430.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AKT1 | NM_001382430.1 | c.1020C>T | p.Tyr340Tyr | synonymous_variant | Exon 12 of 15 | ENST00000649815.2 | NP_001369359.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00216 AC: 329AN: 152160Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.00248 AC: 624AN: 251440Hom.: 2 AF XY: 0.00248 AC XY: 337AN XY: 135906
GnomAD4 exome AF: 0.00376 AC: 5501AN: 1461856Hom.: 15 Cov.: 36 AF XY: 0.00356 AC XY: 2589AN XY: 727238
GnomAD4 genome AF: 0.00216 AC: 329AN: 152278Hom.: 2 Cov.: 33 AF XY: 0.00199 AC XY: 148AN XY: 74446
ClinVar
Submissions by phenotype
not provided Benign:5
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AKT1: BP4, BP7, BS2 -
Cowden syndrome 6 Benign:2
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not specified Benign:1
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Inborn genetic diseases Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at