rs766420
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_012253.4(TKTL1):c.1401+636C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000899 in 111,238 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_012253.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TKTL1 | NM_012253.4 | c.1401+636C>A | intron_variant | ENST00000369915.8 | |||
TKTL1 | NM_001145933.2 | c.1383+636C>A | intron_variant | ||||
TKTL1 | NM_001145934.2 | c.1233+636C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TKTL1 | ENST00000369915.8 | c.1401+636C>A | intron_variant | 1 | NM_012253.4 | P1 | |||
TKTL1 | ENST00000369912.2 | c.1233+636C>A | intron_variant | 1 | |||||
TKTL1 | ENST00000710264.1 | c.1401+636C>A | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.00000899 AC: 1AN: 111238Hom.: 0 Cov.: 23 AF XY: 0.0000299 AC XY: 1AN XY: 33448
GnomAD4 genome ? AF: 0.00000899 AC: 1AN: 111238Hom.: 0 Cov.: 23 AF XY: 0.0000299 AC XY: 1AN XY: 33448
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at