1-99993582-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_012243.3(SLC35A3):c.28C>T(p.Leu10Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,668 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 Likely benign (★).
Frequency
Consequence
NM_012243.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC35A3 | ENST00000533028.8 | c.28C>T | p.Leu10Leu | synonymous_variant | 2/8 | 1 | NM_012243.3 | ENSP00000433849.1 | ||
ENSG00000283761 | ENST00000639037.1 | c.28C>T | p.Leu10Leu | synonymous_variant | 2/17 | 5 | ENSP00000492745.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461668Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727132
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Autism spectrum disorder - epilepsy - arthrogryposis syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 05, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.