1-6424981-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_031475.3(ESPN):āc.26C>Gā(p.Ala9Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000153 in 1,305,310 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_031475.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ESPN | ENST00000645284.1 | c.26C>G | p.Ala9Gly | missense_variant | Exon 1 of 13 | NM_031475.3 | ENSP00000496593.1 | |||
ESPN | ENST00000636330.1 | c.26C>G | p.Ala9Gly | missense_variant | Exon 1 of 11 | 5 | ENSP00000490186.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000153 AC: 2AN: 1305310Hom.: 0 Cov.: 31 AF XY: 0.00000155 AC XY: 1AN XY: 643434
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.