16-28606226-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The ENST00000314752.12(SULT1A1):c.605G>T(p.Arg202Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,610,044 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 (★).
Frequency
Consequence
ENST00000314752.12 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SULT1A1 | NM_001055.4 | c.605G>T | p.Arg202Met | missense_variant | 7/8 | ENST00000314752.12 | NP_001046.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SULT1A1 | ENST00000314752.12 | c.605G>T | p.Arg202Met | missense_variant | 7/8 | 1 | NM_001055.4 | ENSP00000321988 | P1 | |
SULT1A1 | ENST00000569554.5 | c.605G>T | p.Arg202Met | missense_variant | 6/7 | 1 | ENSP00000457912 | P1 | ||
SULT1A1 | ENST00000566189.5 | c.605G>T | p.Arg202Met | missense_variant | 7/8 | 5 | ENSP00000456459 | |||
SULT1A1 | ENST00000567512.1 | c.479G>T | p.Arg160Met | missense_variant | 6/6 | 3 | ENSP00000455979 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151494Hom.: 0 Cov.: 35
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1458550Hom.: 0 Cov.: 78 AF XY: 0.00 AC XY: 0AN XY: 725608
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151494Hom.: 0 Cov.: 35 AF XY: 0.0000135 AC XY: 1AN XY: 73958
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 02, 2022 | The c.605G>T (p.R202M) alteration is located in exon 7 (coding exon 6) of the SULT1A1 gene. This alteration results from a G to T substitution at nucleotide position 605, causing the arginine (R) at amino acid position 202 to be replaced by a methionine (M). 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