1-22576817-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020526.5(EPHA8):c.760C>G(p.Leu254Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,611,326 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L254F) has been classified as Uncertain significance.
Frequency
Consequence
NM_020526.5 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 |
---|---|---|---|---|---|---|---|
EPHA8 | NM_020526.5 | c.760C>G | p.Leu254Val | missense_variant | 3/17 | ENST00000166244.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EPHA8 | ENST00000166244.8 | c.760C>G | p.Leu254Val | missense_variant | 3/17 | 2 | NM_020526.5 | P1 | |
EPHA8 | ENST00000374644.8 | c.760C>G | p.Leu254Val | missense_variant | 3/5 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000920 AC: 14AN: 152250Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 249082Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135108
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1459076Hom.: 0 Cov.: 33 AF XY: 0.0000262 AC XY: 19AN XY: 725616
GnomAD4 genome ? AF: 0.0000920 AC: 14AN: 152250Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 06, 2021 | The c.760C>G (p.L254V) alteration is located in exon 3 (coding exon 3) of the EPHA8 gene. This alteration results from a C to G substitution at nucleotide position 760, causing the leucine (L) at amino acid position 254 to be replaced by a valine (V). 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