6-154810118-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014892.5(SCAF8):c.1330C>T(p.Arg444Trp) variant causes a missense change. The variant allele was found at a frequency of 0.00000868 in 1,613,560 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
Genome browser will be placed here
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.1330C>T | p.Arg444Trp | missense_variant | Exon 12 of 20 | 2 | NM_014892.5 | ENSP00000356146.3 | ||
SCAF8 | ENST00000417268.3 | c.1564C>T | p.Arg522Trp | missense_variant | Exon 13 of 21 | 2 | ENSP00000413098.2 | |||
SCAF8 | ENST00000367186.7 | c.1528C>T | p.Arg510Trp | missense_variant | Exon 14 of 22 | 2 | ENSP00000356154.4 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152020Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250928Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135602
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461540Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727062
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152020Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74236
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1330C>T (p.R444W) alteration is located in exon 12 (coding exon 12) of the SCAF8 gene. This alteration results from a C to T substitution at nucleotide position 1330, causing the arginine (R) at amino acid position 444 to be replaced by a tryptophan (W). 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