2-185738851-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_173651.4(FSIP2):c.-44A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000652 in 1,533,164 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_173651.4 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000333 AC: 5AN: 149932Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000616 AC: 8AN: 129930Hom.: 0 AF XY: 0.0000564 AC XY: 4AN XY: 70924
GnomAD4 exome AF: 0.00000361 AC: 5AN: 1383232Hom.: 0 Cov.: 31 AF XY: 0.00000439 AC XY: 3AN XY: 682602
GnomAD4 genome AF: 0.0000333 AC: 5AN: 149932Hom.: 0 Cov.: 32 AF XY: 0.0000273 AC XY: 2AN XY: 73216
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.224A>G (p.E75G) alteration is located in exon 1 (coding exon 1) of the FSIP2 gene. This alteration results from a A to G substitution at nucleotide position 224, causing the glutamic acid (E) at amino acid position 75 to be replaced by a glycine (G). 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