X-149545740-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001171907.3(EOLA1):c.110G>A(p.Cys37Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000887 in 112,764 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001171907.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EOLA1 | NM_001171907.3 | c.110G>A | p.Cys37Tyr | missense_variant | 4/5 | ENST00000393985.8 | NP_001165378.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EOLA1 | ENST00000393985.8 | c.110G>A | p.Cys37Tyr | missense_variant | 4/5 | 1 | NM_001171907.3 | ENSP00000421745.1 |
Frequencies
GnomAD3 genomes AF: 0.00000887 AC: 1AN: 112764Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34890
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000887 AC: 1AN: 112764Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34890
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 01, 2021 | The c.110G>A (p.C37Y) alteration is located in exon 4 (coding exon 1) of the CXorf40A gene. This alteration results from a G to A substitution at nucleotide position 110, causing the cysteine (C) at amino acid position 37 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at