rs761497343
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001010889.2(PRAMEF6):c.712G>T(p.Val238Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. 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. V238I) has been classified as Uncertain significance.
Frequency
Consequence
NM_001010889.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRAMEF6 | ENST00000376189.5 | c.712G>T | p.Val238Phe | missense_variant | Exon 3 of 4 | 1 | NM_001010889.2 | ENSP00000365360.1 | ||
PRAMEF6 | ENST00000415464.6 | c.712G>T | p.Val238Phe | missense_variant | Exon 3 of 4 | 1 | ENSP00000401281.2 |
Frequencies
GnomAD3 genomes Cov.: 2
GnomAD3 exomes AF: 0.0000196 AC: 1AN: 51004Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 25654
GnomAD4 exome Cov.: 3
GnomAD4 genome Cov.: 2
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at