chr5-51387547-G-A
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_002202.3(ISL1):c.276G>A(p.Val92Val) variant causes a synonymous change. The variant allele was found at a frequency of 0.0000545 in 1,614,228 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_002202.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ISL1 | ENST00000230658.12 | c.276G>A | p.Val92Val | synonymous_variant | Exon 3 of 6 | 1 | NM_002202.3 | ENSP00000230658.7 | ||
ISL1 | ENST00000511384.1 | c.276G>A | p.Val92Val | synonymous_variant | Exon 3 of 6 | 5 | ENSP00000422676.1 | |||
ISL1 | ENST00000505475.3 | n.481G>A | non_coding_transcript_exon_variant | Exon 2 of 5 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000296 AC: 45AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000923 AC: 23AN: 249112Hom.: 0 AF XY: 0.0000518 AC XY: 7AN XY: 135230
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461876Hom.: 0 Cov.: 33 AF XY: 0.0000220 AC XY: 16AN XY: 727240
GnomAD4 genome AF: 0.000289 AC: 44AN: 152352Hom.: 0 Cov.: 32 AF XY: 0.000322 AC XY: 24AN XY: 74492
ClinVar
Submissions by phenotype
ISL1-related disorder Benign:1
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