7-2257434-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_013321.4(SNX8):c.1065G>C(p.Gln355His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 (★).
Frequency
Consequence
NM_013321.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SNX8 | ENST00000222990.8 | c.1065G>C | p.Gln355His | missense_variant | Exon 9 of 11 | 1 | NM_013321.4 | ENSP00000222990.3 | ||
SNX8 | ENST00000480807.1 | n.185G>C | non_coding_transcript_exon_variant | Exon 1 of 3 | 2 | |||||
SNX8 | ENST00000479689.1 | n.*232G>C | downstream_gene_variant | 2 | ||||||
MIR6836 | ENST00000617724.1 | n.*81G>C | downstream_gene_variant | 6 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1065G>C (p.Q355H) alteration is located in exon 9 (coding exon 9) of the SNX8 gene. This alteration results from a G to C substitution at nucleotide position 1065, causing the glutamine (Q) at amino acid position 355 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
Publications
No publications associated with this variant yet.