22-31703600-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173566.3(PRR14L):c.5950G>A(p.Val1984Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173566.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRR14L | NM_173566.3 | c.5950G>A | p.Val1984Met | missense_variant | 6/9 | ENST00000327423.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRR14L | ENST00000327423.11 | c.5950G>A | p.Val1984Met | missense_variant | 6/9 | 5 | NM_173566.3 | P1 | |
PRR14L | ENST00000330495.8 | c.859G>A | p.Val287Met | missense_variant | 3/6 | 1 | |||
PRR14L | ENST00000431684.1 | c.1957G>A | p.Val653Met | missense_variant, NMD_transcript_variant | 3/5 | 2 | |||
PRR14L | ENST00000432485.1 | c.121G>A | p.Val41Met | missense_variant, NMD_transcript_variant | 1/5 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 06, 2023 | The c.5950G>A (p.V1984M) alteration is located in exon 6 (coding exon 5) of the PRR14L gene. This alteration results from a G to A substitution at nucleotide position 5950, causing the valine (V) at amino acid position 1984 to be replaced by a methionine (M). 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.