6-154792863-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014892.5(SCAF8):āc.362A>Gā(p.Asn121Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,611,256 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014892.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SCAF8 | NM_014892.5 | c.362A>G | p.Asn121Ser | missense_variant | 5/20 | ENST00000367178.8 | NP_055707.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SCAF8 | ENST00000367178.8 | c.362A>G | p.Asn121Ser | missense_variant | 5/20 | 2 | NM_014892.5 | ENSP00000356146 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000441 AC: 11AN: 249598Hom.: 0 AF XY: 0.0000593 AC XY: 8AN XY: 134920
GnomAD4 exome AF: 0.0000288 AC: 42AN: 1459056Hom.: 0 Cov.: 29 AF XY: 0.0000344 AC XY: 25AN XY: 725956
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152200Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.362A>G (p.N121S) alteration is located in exon 5 (coding exon 5) of the SCAF8 gene. This alteration results from a A to G substitution at nucleotide position 362, causing the asparagine (N) at amino acid position 121 to be replaced by a serine (S). 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