chr22-49998301-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001371417.1(IL17REL):c.826G>A(p.Ala276Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000181 in 1,603,044 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001371417.1 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL17REL | NM_001371417.1 | c.826G>A | p.Ala276Thr | missense_variant | 10/15 | ENST00000695950.1 | NP_001358346.1 | |
IL17REL | NM_001371416.1 | c.826G>A | p.Ala276Thr | missense_variant | 10/15 | NP_001358345.1 | ||
IL17REL | NM_001001694.3 | c.610G>A | p.Ala204Thr | missense_variant | 10/15 | NP_001001694.2 | ||
IL17REL | XR_001755245.2 | n.945G>A | non_coding_transcript_exon_variant | 10/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL17REL | ENST00000695950.1 | c.826G>A | p.Ala276Thr | missense_variant | 10/15 | NM_001371417.1 | ENSP00000512282.1 | |||
IL17REL | ENST00000695951.1 | c.826G>A | p.Ala276Thr | missense_variant | 10/15 | ENSP00000512283.1 | ||||
IL17REL | ENST00000389983.7 | n.*745G>A | non_coding_transcript_exon_variant | 10/15 | 2 | ENSP00000374633.3 | ||||
IL17REL | ENST00000389983.7 | n.*745G>A | 3_prime_UTR_variant | 10/15 | 2 | ENSP00000374633.3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000260 AC: 6AN: 230872Hom.: 0 AF XY: 0.0000238 AC XY: 3AN XY: 125952
GnomAD4 exome AF: 0.0000193 AC: 28AN: 1450808Hom.: 0 Cov.: 36 AF XY: 0.0000111 AC XY: 8AN XY: 721548
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152236Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 26, 2022 | The c.610G>A (p.A204T) alteration is located in exon 10 (coding exon 7) of the IL17REL gene. This alteration results from a G to A substitution at nucleotide position 610, causing the alanine (A) at amino acid position 204 to be replaced by a threonine (T). 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