1-231337189-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000391858(SPRTN):c.-1195T>C variant causes a 5 prime UTR premature start codon gain change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000161 in 1,613,958 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000391858 5_prime_UTR_premature_start_codon_gain
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 |
---|---|---|---|---|---|---|---|---|---|---|
SPRTN | ENST00000391858 | c.-1195T>C | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 4 | 1 | ENSP00000375731.4 | ||||
EXOC8 | ENST00000366645.1 | c.557A>G | p.Asn186Ser | missense_variant | Exon 1 of 1 | 6 | NM_175876.5 | ENSP00000355605.2 | ||
SPRTN | ENST00000391858 | c.-1195T>C | 5_prime_UTR_variant | Exon 1 of 4 | 1 | ENSP00000375731.4 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251172Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135804
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461800Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 12AN XY: 727202
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.557A>G (p.N186S) alteration is located in exon 1 (coding exon 1) of the EXOC8 gene. This alteration results from a A to G substitution at nucleotide position 557, causing the asparagine (N) at amino acid position 186 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