rs908445283
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_ModerateBP6_Moderate
The NM_173500.4(TTBK2):c.1051C>A(p.Gln351Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000044 in 1,613,912 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. Q351Q) has been classified as Likely benign.
Frequency
Consequence
NM_173500.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTBK2 | NM_173500.4 | c.1051C>A | p.Gln351Lys | missense_variant | 11/15 | ENST00000267890.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTBK2 | ENST00000267890.11 | c.1051C>A | p.Gln351Lys | missense_variant | 11/15 | 5 | NM_173500.4 | P1 | |
TTBK2 | ENST00000567840.5 | c.1051C>A | p.Gln351Lys | missense_variant | 11/12 | 1 | |||
TTBK2 | ENST00000567274.5 | c.946C>A | p.Gln316Lys | missense_variant | 10/11 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152024Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249300Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135242
GnomAD4 exome AF: 0.0000458 AC: 67AN: 1461888Hom.: 0 Cov.: 33 AF XY: 0.0000509 AC XY: 37AN XY: 727248
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152024Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74232
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | May 26, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at