rs782258164
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001184749.3(SLITRK4):c.1015C>T(p.Leu339Leu) variant causes a synonymous change. The variant allele was found at a frequency of 0.000000911 in 1,098,146 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001184749.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLITRK4 | ENST00000356928.2 | c.1015C>T | p.Leu339Leu | synonymous_variant | Exon 2 of 2 | 2 | NM_001184749.3 | ENSP00000349400.1 | ||
SLITRK4 | ENST00000338017.8 | c.1015C>T | p.Leu339Leu | synonymous_variant | Exon 2 of 2 | 1 | ENSP00000336627.4 | |||
SLITRK4 | ENST00000596188.2 | c.1015C>T | p.Leu339Leu | synonymous_variant | Exon 2 of 2 | 1 | ENSP00000469205.1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome AF: 9.11e-7 AC: 1AN: 1098146Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 363502
GnomAD4 genome Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.