2-148765027-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015630.4(EPC2):c.1021C>T(p.Pro341Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000687 in 1,455,884 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015630.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EPC2 | NM_015630.4 | c.1021C>T | p.Pro341Ser | missense_variant | Exon 7 of 14 | ENST00000258484.11 | NP_056445.3 | |
EPC2 | XM_011510941.3 | c.1021C>T | p.Pro341Ser | missense_variant | Exon 7 of 14 | XP_011509243.1 | ||
EPC2 | XM_011510943.4 | c.754C>T | p.Pro252Ser | missense_variant | Exon 6 of 13 | XP_011509245.1 | ||
EPC2 | XM_047443897.1 | c.673C>T | p.Pro225Ser | missense_variant | Exon 6 of 13 | XP_047299853.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1455884Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 724230
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1021C>T (p.P341S) alteration is located in exon 7 (coding exon 7) of the EPC2 gene. This alteration results from a C to T substitution at nucleotide position 1021, causing the proline (P) at amino acid position 341 to be replaced by a serine (S). 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
Publications
No publications associated with this variant yet.