rs3800294
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_032538.3(TTBK1):āc.1868G>Cā(p.Gly623Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.34 in 1,569,006 control chromosomes in the GnomAD database, including 91,154 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_032538.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTBK1 | NM_032538.3 | c.1868G>C | p.Gly623Ala | missense_variant | 13/15 | ENST00000259750.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTBK1 | ENST00000259750.9 | c.1868G>C | p.Gly623Ala | missense_variant | 13/15 | 1 | NM_032538.3 | P3 | |
TTBK1 | ENST00000703836.1 | c.1868G>C | p.Gly623Ala | missense_variant | 12/13 | A2 | |||
TTBK1 | ENST00000304139.6 | n.1877G>C | non_coding_transcript_exon_variant | 12/13 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.344 AC: 52291AN: 152014Hom.: 9024 Cov.: 33
GnomAD3 exomes AF: 0.320 AC: 57073AN: 178416Hom.: 9161 AF XY: 0.322 AC XY: 30901AN XY: 96114
GnomAD4 exome AF: 0.340 AC: 481633AN: 1416874Hom.: 82124 Cov.: 48 AF XY: 0.340 AC XY: 238006AN XY: 700430
GnomAD4 genome ? AF: 0.344 AC: 52316AN: 152132Hom.: 9030 Cov.: 33 AF XY: 0.343 AC XY: 25536AN XY: 74380
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 15, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at