11-65864791-G-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_025128.5(MUS81):c.1248G>T(p.Thr416Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.627 in 1,612,924 control chromosomes in the GnomAD database, including 328,492 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_025128.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.526 AC: 79843AN: 151936Hom.: 23677 Cov.: 33
GnomAD3 exomes AF: 0.573 AC: 143491AN: 250230Hom.: 44315 AF XY: 0.595 AC XY: 80586AN XY: 135346
GnomAD4 exome AF: 0.638 AC: 932128AN: 1460870Hom.: 304820 Cov.: 51 AF XY: 0.641 AC XY: 465888AN XY: 726782
GnomAD4 genome AF: 0.525 AC: 79850AN: 152054Hom.: 23672 Cov.: 33 AF XY: 0.528 AC XY: 39262AN XY: 74346
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at