chr10-97319722-C-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_005479.4(FRAT1):c.269C>A(p.Ala90Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000303 in 1,188,090 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005479.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000200 AC: 30AN: 149830Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000578 AC: 6AN: 1038152Hom.: 0 Cov.: 31 AF XY: 0.00000816 AC XY: 4AN XY: 490052
GnomAD4 genome AF: 0.000200 AC: 30AN: 149938Hom.: 0 Cov.: 32 AF XY: 0.000178 AC XY: 13AN XY: 73212
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.269C>A (p.A90E) alteration is located in exon 1 (coding exon 1) of the FRAT1 gene. This alteration results from a C to A substitution at nucleotide position 269, causing the alanine (A) at amino acid position 90 to be replaced by a glutamic acid (E). 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