rs35588791
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_001626.6(AKT2):c.93C>T(p.Ser31Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00425 in 1,614,128 control chromosomes in the GnomAD database, including 38 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001626.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AKT2 | NM_001626.6 | c.93C>T | p.Ser31Ser | synonymous_variant | Exon 3 of 14 | ENST00000392038.7 | NP_001617.1 | |
AKT2 | NM_001330511.1 | c.93C>T | p.Ser31Ser | synonymous_variant | Exon 2 of 12 | NP_001317440.1 | ||
AKT2 | NM_001243027.3 | c.-94C>T | 5_prime_UTR_variant | Exon 3 of 14 | NP_001229956.1 | |||
AKT2 | NM_001243028.3 | c.-94C>T | 5_prime_UTR_variant | Exon 2 of 13 | NP_001229957.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00294 AC: 447AN: 152202Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00357 AC: 898AN: 251480Hom.: 3 AF XY: 0.00413 AC XY: 562AN XY: 135914
GnomAD4 exome AF: 0.00439 AC: 6413AN: 1461808Hom.: 37 Cov.: 32 AF XY: 0.00457 AC XY: 3324AN XY: 727212
GnomAD4 genome AF: 0.00293 AC: 446AN: 152320Hom.: 1 Cov.: 32 AF XY: 0.00305 AC XY: 227AN XY: 74478
ClinVar
Submissions by phenotype
not provided Benign:3
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AKT2: BP4, BP7, BS1, BS2 -
not specified Benign:2
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Type 2 diabetes mellitus Benign:1
Potent mutationsin AKT2 gene are associated with familial partial lipodystrophy and in terms of metabolic abnormality, can present with insulin resistance, hyperglycemia and Diabetes. In, silico analysis revealed that this particular rs35588791 is prevalent with Type 2 Diabetes -
Type 2 diabetes mellitus;C3278384:Hypoinsulinemic hypoglycemia and body hemihypertrophy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at