7-101240241-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_016068.3(FIS1):c.262G>C(p.Glu88Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000062 in 1,614,078 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016068.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249536Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135380
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461838Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727230
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152240Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.262G>C (p.E88Q) alteration is located in exon 4 (coding exon 4) of the FIS1 gene. This alteration results from a G to C substitution at nucleotide position 262, causing the glutamic acid (E) at amino acid position 88 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