chr11-64562018-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018484.4(SLC22A11):c.512C>T(p.Pro171Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000521 in 1,612,782 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018484.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC22A11 | NM_018484.4 | c.512C>T | p.Pro171Leu | missense_variant | 3/10 | ENST00000301891.9 | |
SLC22A11 | NM_001307985.2 | c.512C>T | p.Pro171Leu | missense_variant | 3/8 | ||
SLC22A11 | XM_011545167.2 | c.113C>T | p.Pro38Leu | missense_variant | 2/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC22A11 | ENST00000301891.9 | c.512C>T | p.Pro171Leu | missense_variant | 3/10 | 1 | NM_018484.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152194Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000320 AC: 8AN: 249648Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135128
GnomAD4 exome AF: 0.0000507 AC: 74AN: 1460588Hom.: 0 Cov.: 31 AF XY: 0.0000523 AC XY: 38AN XY: 726538
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152194Hom.: 0 Cov.: 31 AF XY: 0.0000807 AC XY: 6AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 21, 2022 | The c.512C>T (p.P171L) alteration is located in exon 3 (coding exon 3) of the SLC22A11 gene. This alteration results from a C to T substitution at nucleotide position 512, causing the proline (P) at amino acid position 171 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