rs1038291674
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_031475.3(ESPN):c.97G>A(p.Asp33Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000152 in 1,317,360 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D33Y) has been classified as Uncertain significance.
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.97G>A | p.Asp33Asn | missense_variant | Exon 1 of 13 | NM_031475.3 | ENSP00000496593.1 | |||
ESPN | ENST00000636330.1 | c.97G>A | p.Asp33Asn | missense_variant | Exon 1 of 11 | 5 | ENSP00000490186.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000152 AC: 2AN: 1317360Hom.: 0 Cov.: 31 AF XY: 0.00000154 AC XY: 1AN XY: 649436
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.