rs397515736
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The ENST00000475699.6(TAFAZZIN):c.137C>T(p.Pro46Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000134 in 1,198,178 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 4 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 11/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
ENST00000475699.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAFAZZIN | NM_000116.5 | c.109+28C>T | intron_variant | ENST00000601016.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAFAZZIN | ENST00000601016.6 | c.109+28C>T | intron_variant | 1 | NM_000116.5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000891 AC: 1AN: 112262Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34432
GnomAD3 exomes AF: 0.0000777 AC: 12AN: 154434Hom.: 0 AF XY: 0.0000202 AC XY: 1AN XY: 49592
GnomAD4 exome AF: 0.0000138 AC: 15AN: 1085916Hom.: 0 Cov.: 29 AF XY: 0.0000113 AC XY: 4AN XY: 354058
GnomAD4 genome ? AF: 0.00000891 AC: 1AN: 112262Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34432
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | May 04, 2012 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at