1-99709029-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001013660.4(FRRS1):c.1750G>A(p.Glu584Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000151 in 1,461,784 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001013660.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FRRS1 | NM_001361041.2 | c.1778G>A | p.Ter593Ter | stop_retained_variant | Exon 17 of 17 | ENST00000646001.2 | NP_001347970.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FRRS1 | ENST00000646001.2 | c.1778G>A | p.Ter593Ter | stop_retained_variant | Exon 17 of 17 | NM_001361041.2 | ENSP00000496583.2 | |||
FRRS1 | ENST00000287474.9 | c.1750G>A | p.Glu584Lys | missense_variant | Exon 17 of 17 | 2 | ENSP00000287474.4 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461784Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727196
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1750G>A (p.E584K) alteration is located in exon 17 (coding exon 15) of the FRRS1 gene. This alteration results from a G to A substitution at nucleotide position 1750, causing the glutamic acid (E) at amino acid position 584 to be replaced by a lysine (K). 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