chr12-6935675-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_001940.4(ATN1):c.408C>T(p.Tyr136Tyr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00738 in 1,614,012 control chromosomes in the GnomAD database, including 64 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001940.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00485 AC: 738AN: 152110Hom.: 4 Cov.: 31
GnomAD3 exomes AF: 0.00436 AC: 1095AN: 251382Hom.: 8 AF XY: 0.00414 AC XY: 563AN XY: 135866
GnomAD4 exome AF: 0.00764 AC: 11166AN: 1461784Hom.: 60 Cov.: 38 AF XY: 0.00737 AC XY: 5363AN XY: 727214
GnomAD4 genome AF: 0.00485 AC: 738AN: 152228Hom.: 4 Cov.: 31 AF XY: 0.00458 AC XY: 341AN XY: 74450
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:2
- -
- -
ATN1: BP4, BP7, BS2 -
not specified Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at