16-28608830-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001055.4(SULT1A1):c.26G>A(p.Arg9His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000263 in 151,976 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. R9R) has been classified as Likely benign.
Frequency
Consequence
NM_001055.4 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 | UniProt |
---|---|---|---|---|---|---|---|
SULT1A1 | NM_001055.4 | c.26G>A | p.Arg9His | missense_variant | 2/8 | ENST00000314752.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SULT1A1 | ENST00000314752.12 | c.26G>A | p.Arg9His | missense_variant | 2/8 | 1 | NM_001055.4 | P1 | |
SULT1A1 | ENST00000569554.5 | c.26G>A | p.Arg9His | missense_variant | 1/7 | 1 | P1 | ||
SULT1A1 | ENST00000566189.5 | c.26G>A | p.Arg9His | missense_variant | 2/8 | 5 | |||
SULT1A1 | ENST00000567512.1 | c.26G>A | p.Arg9His | missense_variant | 2/6 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 151976Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250886Hom.: 1 AF XY: 0.0000295 AC XY: 4AN XY: 135638
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000891 AC: 13AN: 1459608Hom.: 1 Cov.: 36 AF XY: 0.00000551 AC XY: 4AN XY: 726104
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 151976Hom.: 0 Cov.: 35 AF XY: 0.0000269 AC XY: 2AN XY: 74244
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 29, 2024 | The c.26G>A (p.R9H) alteration is located in exon 2 (coding exon 1) of the SULT1A1 gene. This alteration results from a G to A substitution at nucleotide position 26, causing the arginine (R) at amino acid position 9 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