chrX-151716212-C-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_033085.3(FATE1):c.93C>A(p.His31Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000249 in 1,165,618 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 13 hemizygotes in GnomAD. 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 Uncertain significance (★).
Frequency
Consequence
NM_033085.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000178 AC: 2AN: 112378Hom.: 0 Cov.: 23 AF XY: 0.0000290 AC XY: 1AN XY: 34526
GnomAD3 exomes AF: 0.00000872 AC: 1AN: 114639Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 40477
GnomAD4 exome AF: 0.0000256 AC: 27AN: 1053240Hom.: 0 Cov.: 29 AF XY: 0.0000349 AC XY: 12AN XY: 344048
GnomAD4 genome AF: 0.0000178 AC: 2AN: 112378Hom.: 0 Cov.: 23 AF XY: 0.0000290 AC XY: 1AN XY: 34526
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.93C>A (p.H31Q) alteration is located in exon 1 (coding exon 1) of the FATE1 gene. This alteration results from a C to A substitution at nucleotide position 93, causing the histidine (H) at amino acid position 31 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at