20-43460207-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_006275.6(SRSF6):c.556A>G(p.Ser186Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000112 in 1,614,216 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
Genome browser will be placed here
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.556A>G | p.Ser186Gly | missense_variant | Exon 4 of 6 | 1 | NM_006275.6 | ENSP00000244020.3 | ||
ENSG00000288000 | ENST00000657241.1 | c.535A>G | p.Ser179Gly | missense_variant | Exon 4 of 26 | ENSP00000499734.1 |
Frequencies
GnomAD3 genomes AF: 0.0000525 AC: 8AN: 152246Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250692Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135818
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461852Hom.: 0 Cov.: 33 AF XY: 0.00000963 AC XY: 7AN XY: 727224
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152364Hom.: 0 Cov.: 33 AF XY: 0.0000805 AC XY: 6AN XY: 74514
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.556A>G (p.S186G) alteration is located in exon 4 (coding exon 4) of the SRSF6 gene. This alteration results from a A to G substitution at nucleotide position 556, causing the serine (S) at amino acid position 186 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