20-43460202-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.551G>A(p.Arg184His) variant causes a missense change. The variant allele was found at a frequency of 0.000334 in 1,613,810 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R184C) has been classified 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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRSF6 | NM_006275.6 | c.551G>A | p.Arg184His | missense_variant | 4/6 | ENST00000244020.5 | |
SRSF6 | NR_034009.2 | n.957G>A | non_coding_transcript_exon_variant | 5/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRSF6 | ENST00000244020.5 | c.551G>A | p.Arg184His | missense_variant | 4/6 | 1 | NM_006275.6 | P2 |
Frequencies
GnomAD3 genomes AF: 0.000368 AC: 56AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000189 AC: 47AN: 249196Hom.: 0 AF XY: 0.000192 AC XY: 26AN XY: 135330
GnomAD4 exome AF: 0.000330 AC: 483AN: 1461616Hom.: 0 Cov.: 33 AF XY: 0.000318 AC XY: 231AN XY: 727112
GnomAD4 genome AF: 0.000368 AC: 56AN: 152194Hom.: 0 Cov.: 33 AF XY: 0.000363 AC XY: 27AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 22, 2023 | The c.551G>A (p.R184H) alteration is located in exon 4 (coding exon 4) of the SRSF6 gene. This alteration results from a G to A substitution at nucleotide position 551, causing the arginine (R) at amino acid position 184 to be replaced by a histidine (H). 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