chrX-28789379-C-T
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_ModerateBP6_Very_StrongBP7BS2
The NM_014271.4(IL1RAPL1):c.36C>T(p.Tyr12Tyr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0015 in 1,208,183 control chromosomes in the GnomAD database, including 3 homozygotes. There are 592 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_014271.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00127 AC: 142AN: 112000Hom.: 0 Cov.: 23 AF XY: 0.00114 AC XY: 39AN XY: 34178
GnomAD3 exomes AF: 0.00173 AC: 318AN: 183373Hom.: 2 AF XY: 0.00159 AC XY: 108AN XY: 67833
GnomAD4 exome AF: 0.00152 AC: 1671AN: 1096129Hom.: 3 Cov.: 29 AF XY: 0.00153 AC XY: 553AN XY: 361615
GnomAD4 genome AF: 0.00127 AC: 142AN: 112054Hom.: 0 Cov.: 23 AF XY: 0.00114 AC XY: 39AN XY: 34242
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:1
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Intellectual disability, X-linked 21 Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at