rs376206530
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001010867.4(IBA57):āc.961C>Gā(p.Leu321Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,612,846 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L321L) has been classified as Likely benign.
Frequency
Consequence
NM_001010867.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IBA57 | NM_001010867.4 | c.961C>G | p.Leu321Val | missense_variant | 3/3 | ENST00000366711.4 | |
IBA57 | NM_001310327.2 | c.382C>G | p.Leu128Val | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IBA57 | ENST00000366711.4 | c.961C>G | p.Leu321Val | missense_variant | 3/3 | 2 | NM_001010867.4 | P1 | |
IBA57 | ENST00000484749.5 | n.2961C>G | non_coding_transcript_exon_variant | 3/3 | 5 | ||||
IBA57 | ENST00000546123.2 | n.681C>G | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152224Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250222Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135532
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460622Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726606
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152224Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at