rs3746803
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_033409.4(SLC52A3):c.833C>T(p.Thr278Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.106 in 1,614,094 control chromosomes in the GnomAD database, including 9,591 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T278R) has been classified as Uncertain significance.
Frequency
Consequence
NM_033409.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC52A3 | NM_033409.4 | c.833C>T | p.Thr278Met | missense_variant | 3/5 | ENST00000645534.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC52A3 | ENST00000645534.1 | c.833C>T | p.Thr278Met | missense_variant | 3/5 | NM_033409.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0931 AC: 14169AN: 152174Hom.: 699 Cov.: 33
GnomAD3 exomes AF: 0.101 AC: 25500AN: 251306Hom.: 1402 AF XY: 0.105 AC XY: 14308AN XY: 135854
GnomAD4 exome AF: 0.108 AC: 157634AN: 1461802Hom.: 8891 Cov.: 35 AF XY: 0.109 AC XY: 79009AN XY: 727214
GnomAD4 genome ? AF: 0.0931 AC: 14176AN: 152292Hom.: 700 Cov.: 33 AF XY: 0.0928 AC XY: 6908AN XY: 74460
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Aug 23, 2017 | p.Thr278Met in exon 3 of SLC52A3: This variant is not expected to have clinical significance because it has been identified in 13.64% (2253/16512) of South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs3746803). - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Aug 01, 2018 | This variant is associated with the following publications: (PMID: 22471455) - |
Progressive bulbar palsy of childhood;C0796274:Brown-Vialetto-van Laere syndrome 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Mar 30, 2022 | - - |
Brown-Vialetto-van Laere syndrome 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at