5-35871088-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002185.5(IL7R):c.412G>T(p.Val138Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,460,122 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V138I) has been classified as Benign.
Frequency
Consequence
NM_002185.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL7R | ENST00000303115.8 | c.412G>T | p.Val138Phe | missense_variant | Exon 4 of 8 | 1 | NM_002185.5 | ENSP00000306157.3 | ||
IL7R | ENST00000506850.5 | c.412G>T | p.Val138Phe | missense_variant | Exon 4 of 6 | 2 | ENSP00000421207.1 | |||
IL7R | ENST00000514217.5 | n.412G>T | non_coding_transcript_exon_variant | Exon 4 of 6 | 2 | ENSP00000427688.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460122Hom.: 0 Cov.: 36 AF XY: 0.00000413 AC XY: 3AN XY: 726514
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at