rs1263648879
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014892.5(SCAF8):c.1241G>A(p.Arg414Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 1,434,194 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014892.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SCAF8 | ENST00000367178.8 | c.1241G>A | p.Arg414Gln | missense_variant | Exon 12 of 20 | 2 | NM_014892.5 | ENSP00000356146.3 | ||
SCAF8 | ENST00000417268.3 | c.1475G>A | p.Arg492Gln | missense_variant | Exon 13 of 21 | 2 | ENSP00000413098.2 | |||
SCAF8 | ENST00000367186.7 | c.1439G>A | p.Arg480Gln | missense_variant | Exon 14 of 22 | 2 | ENSP00000356154.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000890 AC: 2AN: 224794Hom.: 0 AF XY: 0.00000820 AC XY: 1AN XY: 121928
GnomAD4 exome AF: 0.0000132 AC: 19AN: 1434194Hom.: 0 Cov.: 31 AF XY: 0.0000140 AC XY: 10AN XY: 712842
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1241G>A (p.R414Q) alteration is located in exon 12 (coding exon 12) of the SCAF8 gene. This alteration results from a G to A substitution at nucleotide position 1241, causing the arginine (R) at amino acid position 414 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