1-6424956-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PVS1_Moderate
The NM_031475.3(ESPN):āc.1A>Cā(p.Met1?) variant causes a initiator codon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000853 in 1,288,914 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 initiator_codon
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.1A>C | p.Met1? | initiator_codon_variant | Exon 1 of 13 | NM_031475.3 | ENSP00000496593.1 | |||
ESPN | ENST00000636330.1 | c.1A>C | p.Met1? | initiator_codon_variant | Exon 1 of 11 | 5 | ENSP00000490186.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000853 AC: 11AN: 1288914Hom.: 0 Cov.: 31 AF XY: 0.00000472 AC XY: 3AN XY: 635350
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
This variant has not been reported in the literature in individuals affected with ESPN-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the ESPN mRNA. The next in-frame methionine is located at codon 137. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.