rs762641128
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006275.6(SRSF6):c.229C>A(p.Arg77Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000221 in 1,359,488 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R77C) has been classified as Uncertain significance.
Frequency
Consequence
NM_006275.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SRSF6 | NM_006275.6 | c.229C>A | p.Arg77Ser | missense_variant | Exon 2 of 6 | ENST00000244020.5 | NP_006266.2 | |
SRSF6 | XM_047440372.1 | c.229C>A | p.Arg77Ser | missense_variant | Exon 2 of 3 | XP_047296328.1 | ||
SRSF6 | NR_034009.2 | n.367C>A | non_coding_transcript_exon_variant | Exon 2 of 7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SRSF6 | ENST00000244020.5 | c.229C>A | p.Arg77Ser | missense_variant | Exon 2 of 6 | 1 | NM_006275.6 | ENSP00000244020.3 | ||
ENSG00000288000 | ENST00000657241.1 | c.208C>A | p.Arg70Ser | missense_variant | Exon 2 of 26 | ENSP00000499734.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000221 AC: 3AN: 1359488Hom.: 0 Cov.: 33 AF XY: 0.00000447 AC XY: 3AN XY: 671006
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.