11-64556004-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_018484.4(SLC22A11):c.5C>T(p.Ala2Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00282 in 1,605,046 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_018484.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC22A11 | NM_018484.4 | c.5C>T | p.Ala2Val | missense_variant | 1/10 | ENST00000301891.9 | |
SLC22A11 | NM_001307985.2 | c.5C>T | p.Ala2Val | missense_variant | 1/8 | ||
SLC22A11 | XM_011545167.2 | c.-291C>T | 5_prime_UTR_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC22A11 | ENST00000301891.9 | c.5C>T | p.Ala2Val | missense_variant | 1/10 | 1 | NM_018484.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00189 AC: 287AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00154 AC: 377AN: 244776Hom.: 0 AF XY: 0.00156 AC XY: 207AN XY: 132610
GnomAD4 exome AF: 0.00291 AC: 4232AN: 1452728Hom.: 14 Cov.: 31 AF XY: 0.00282 AC XY: 2035AN XY: 722556
GnomAD4 genome AF: 0.00188 AC: 287AN: 152318Hom.: 0 Cov.: 32 AF XY: 0.00172 AC XY: 128AN XY: 74474
ClinVar
Submissions by phenotype
SLC22A11-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jun 07, 2023 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at