5-151467783-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_078483.4(SLC36A1):c.581C>T(p.Ser194Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000192 in 1,614,038 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 Uncertain significance (★).
Frequency
Consequence
NM_078483.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC36A1 | ENST00000243389.8 | c.581C>T | p.Ser194Leu | missense_variant | Exon 7 of 11 | 1 | NM_078483.4 | ENSP00000243389.3 | ||
SLC36A1 | ENST00000521925.5 | c.581C>T | p.Ser194Leu | missense_variant | Exon 7 of 10 | 1 | ENSP00000430305.1 | |||
SLC36A1 | ENST00000429484.6 | c.581C>T | p.Ser194Leu | missense_variant | Exon 7 of 9 | 1 | ENSP00000395640.2 | |||
SLC36A1 | ENST00000520701.5 | c.581C>T | p.Ser194Leu | missense_variant | Exon 7 of 11 | 5 | ENSP00000428140.1 |
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 152052Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000676 AC: 17AN: 251488Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135918
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461868Hom.: 0 Cov.: 32 AF XY: 0.0000206 AC XY: 15AN XY: 727240
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152170Hom.: 0 Cov.: 30 AF XY: 0.0000672 AC XY: 5AN XY: 74404
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.581C>T (p.S194L) alteration is located in exon 7 (coding exon 6) of the SLC36A1 gene. This alteration results from a C to T substitution at nucleotide position 581, causing the serine (S) at amino acid position 194 to be replaced by a leucine (L). 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