NM_032229.3:c.2314A>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032229.3(SLITRK6):c.2314A>T(p.Thr772Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,612,942 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
NM_032229.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000855 AC: 13AN: 151982Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 248124Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134580
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1460842Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 726760
GnomAD4 genome AF: 0.0000855 AC: 13AN: 152100Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74364
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.2314A>T (p.T772S) alteration is located in exon 2 (coding exon 1) of the SLITRK6 gene. This alteration results from a A to T substitution at nucleotide position 2314, causing the threonine (T) at amino acid position 772 to be replaced by a serine (S). 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