16-24877355-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001352248.3(SLC5A11):c.575C>T(p.Thr192Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000172 in 1,613,022 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001352248.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC5A11 | NM_001352248.3 | c.575C>T | p.Thr192Met | missense_variant | Exon 8 of 17 | ENST00000424767.7 | NP_001339177.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000918 AC: 23AN: 250484Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135328
GnomAD4 exome AF: 0.000183 AC: 267AN: 1460698Hom.: 0 Cov.: 32 AF XY: 0.000168 AC XY: 122AN XY: 726650
GnomAD4 genome AF: 0.0000656 AC: 10AN: 152324Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74488
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.575C>T (p.T192M) alteration is located in exon 7 (coding exon 6) of the SLC5A11 gene. This alteration results from a C to T substitution at nucleotide position 575, causing the threonine (T) at amino acid position 192 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