rs751119069
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_ModerateBS2
The NM_001807.6(CEL):c.979G>A(p.Ala327Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000134 in 149,480 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001807.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEL | NM_001807.6 | c.979G>A | p.Ala327Thr | missense_variant | 8/11 | ENST00000372080.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEL | ENST00000372080.8 | c.979G>A | p.Ala327Thr | missense_variant | 8/11 | 5 | NM_001807.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000134 AC: 2AN: 149480Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.0000434 AC: 10AN: 230346Hom.: 0 AF XY: 0.0000557 AC XY: 7AN XY: 125756
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000234 AC: 34AN: 1451422Hom.: 0 Cov.: 31 AF XY: 0.0000305 AC XY: 22AN XY: 721806
GnomAD4 genome ? AF: 0.0000134 AC: 2AN: 149480Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 72852
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Jun 27, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at