12-20721819-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017435.5(SLCO1C1):c.791C>T(p.Thr264Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,613,978 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017435.5 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 |
---|---|---|---|---|---|---|---|---|
SLCO1C1 | NM_017435.5 | c.791C>T | p.Thr264Ile | missense_variant | Exon 8 of 15 | ENST00000266509.7 | NP_059131.1 | |
SLCO1C1 | NM_001145946.2 | c.791C>T | p.Thr264Ile | missense_variant | Exon 9 of 16 | NP_001139418.1 | ||
SLCO1C1 | NM_001145945.2 | c.644C>T | p.Thr215Ile | missense_variant | Exon 8 of 15 | NP_001139417.1 | ||
SLCO1C1 | NM_001145944.2 | c.437C>T | p.Thr146Ile | missense_variant | Exon 6 of 13 | NP_001139416.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152136Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251370Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135862
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461842Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727216
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152136Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.791C>T (p.T264I) alteration is located in exon 9 (coding exon 7) of the SLCO1C1 gene. This alteration results from a C to T substitution at nucleotide position 791, causing the threonine (T) at amino acid position 264 to be replaced by an isoleucine (I). 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