19-48587223-C-G
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS1
The NM_177973.2(SULT2B1):c.215-6C>G variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00087 in 1,602,946 control chromosomes in the GnomAD database, including 10 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_177973.2 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SULT2B1 | NM_177973.2 | c.215-6C>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000201586.7 | |||
SULT2B1 | NM_004605.2 | c.170-6C>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SULT2B1 | ENST00000201586.7 | c.215-6C>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_177973.2 | P2 | |||
SULT2B1 | ENST00000323090.4 | c.170-6C>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | A2 | ||||
ENST00000666424.1 | n.493+9523G>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.000881 AC: 134AN: 152150Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.00140 AC: 338AN: 242012Hom.: 1 AF XY: 0.00135 AC XY: 177AN XY: 130884
GnomAD4 exome AF: 0.000869 AC: 1260AN: 1450678Hom.: 9 Cov.: 31 AF XY: 0.000886 AC XY: 638AN XY: 720370
GnomAD4 genome ? AF: 0.000880 AC: 134AN: 152268Hom.: 1 Cov.: 31 AF XY: 0.000685 AC XY: 51AN XY: 74460
ClinVar
Submissions by phenotype
SULT2B1-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jul 14, 2020 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 19, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at