11-77672185-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_016578.4(RSF1):c.3608G>A(p.Arg1203Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000869 in 1,610,488 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_016578.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RSF1 | NM_016578.4 | c.3608G>A | p.Arg1203Gln | missense_variant | Exon 15 of 16 | ENST00000308488.11 | NP_057662.3 | |
RSF1 | XM_005274051.3 | c.3599G>A | p.Arg1200Gln | missense_variant | Exon 15 of 16 | XP_005274108.1 | ||
RSF1 | XM_017017923.2 | c.3485G>A | p.Arg1162Gln | missense_variant | Exon 15 of 16 | XP_016873412.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RSF1 | ENST00000308488.11 | c.3608G>A | p.Arg1203Gln | missense_variant | Exon 15 of 16 | 1 | NM_016578.4 | ENSP00000311513.6 | ||
RSF1 | ENST00000480887.5 | c.2852G>A | p.Arg951Gln | missense_variant | Exon 10 of 11 | 1 | ENSP00000434509.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151980Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 247184Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133494
GnomAD4 exome AF: 0.00000823 AC: 12AN: 1458508Hom.: 0 Cov.: 30 AF XY: 0.00000276 AC XY: 2AN XY: 725350
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151980Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74228
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3608G>A (p.R1203Q) alteration is located in exon 15 (coding exon 15) of the RSF1 gene. This alteration results from a G to A substitution at nucleotide position 3608, causing the arginine (R) at amino acid position 1203 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