15-76340327-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_145805.3(ISL2):c.563C>T(p.Thr188Met) variant causes a missense change. The variant allele was found at a frequency of 0.00000548 in 1,459,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. T188R) has been classified as Uncertain significance.
Frequency
Consequence
NM_145805.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ISL2 | ENST00000290759.9 | c.563C>T | p.Thr188Met | missense_variant | Exon 4 of 6 | 1 | NM_145805.3 | ENSP00000290759.4 | ||
ISL2 | ENST00000558656.1 | n.300C>T | non_coding_transcript_exon_variant | Exon 3 of 5 | 5 | ENSP00000453837.1 | ||||
ENSG00000259514 | ENST00000559539.1 | n.338G>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 3 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1459518Hom.: 0 Cov.: 41 AF XY: 0.00000551 AC XY: 4AN XY: 726068
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at