11-77672182-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_016578.4(RSF1):c.3611G>A(p.Arg1204Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000174 in 1,611,230 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.3611G>A | p.Arg1204Gln | missense_variant | Exon 15 of 16 | ENST00000308488.11 | NP_057662.3 | |
RSF1 | XM_005274051.3 | c.3602G>A | p.Arg1201Gln | missense_variant | Exon 15 of 16 | XP_005274108.1 | ||
RSF1 | XM_017017923.2 | c.3488G>A | p.Arg1163Gln | 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.3611G>A | p.Arg1204Gln | missense_variant | Exon 15 of 16 | 1 | NM_016578.4 | ENSP00000311513.6 | ||
RSF1 | ENST00000480887.5 | c.2855G>A | p.Arg952Gln | missense_variant | Exon 10 of 11 | 1 | ENSP00000434509.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152094Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 247870Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133826
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1459018Hom.: 0 Cov.: 30 AF XY: 0.0000193 AC XY: 14AN XY: 725630
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74410
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3611G>A (p.R1204Q) 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 3611, causing the arginine (R) at amino acid position 1204 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