20-43460726-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_006275.6(SRSF6):c.698G>A(p.Arg233Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000304 in 1,613,472 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006275.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SRSF6 | ENST00000244020.5 | c.698G>A | p.Arg233Gln | missense_variant | Exon 6 of 6 | 1 | NM_006275.6 | ENSP00000244020.3 | ||
ENSG00000288000 | ENST00000657241.1 | c.653+128G>A | intron_variant | Intron 5 of 25 | ENSP00000499734.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152126Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000558 AC: 14AN: 251004Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135688
GnomAD4 exome AF: 0.0000281 AC: 41AN: 1461228Hom.: 0 Cov.: 36 AF XY: 0.0000289 AC XY: 21AN XY: 726808
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152244Hom.: 0 Cov.: 33 AF XY: 0.0000806 AC XY: 6AN XY: 74434
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.698G>A (p.R233Q) alteration is located in exon 6 (coding exon 6) of the SRSF6 gene. This alteration results from a G to A substitution at nucleotide position 698, causing the arginine (R) at amino acid position 233 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