3-10912109-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_014229.3(SLC6A11):c.911C>T(p.Thr304Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,118 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014229.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC6A11 | NM_014229.3 | c.911C>T | p.Thr304Met | missense_variant | Exon 7 of 14 | ENST00000254488.7 | NP_055044.1 | |
SLC6A11 | XM_047448764.1 | c.389C>T | p.Thr130Met | missense_variant | Exon 5 of 12 | XP_047304720.1 | ||
SLC6A11 | XM_011534033.3 | c.911C>T | p.Thr304Met | missense_variant | Exon 7 of 9 | XP_011532335.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251458Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135900
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461118Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 726912
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.911C>T (p.T304M) alteration is located in exon 7 (coding exon 7) of the SLC6A11 gene. This alteration results from a C to T substitution at nucleotide position 911, causing the threonine (T) at amino acid position 304 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