NM_006987.4:c.551C>T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006987.4(RPH3AL):c.551C>T(p.Pro184Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,613,986 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006987.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPH3AL | NM_006987.4 | c.551C>T | p.Pro184Leu | missense_variant | Exon 7 of 10 | ENST00000331302.12 | NP_008918.1 | |
RPH3AL | NM_001190411.2 | c.551C>T | p.Pro184Leu | missense_variant | Exon 6 of 9 | NP_001177340.1 | ||
RPH3AL | NM_001190412.2 | c.464C>T | p.Pro155Leu | missense_variant | Exon 6 of 9 | NP_001177341.1 | ||
RPH3AL | NM_001190413.2 | c.464C>T | p.Pro155Leu | missense_variant | Exon 5 of 8 | NP_001177342.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251324Hom.: 1 AF XY: 0.0000294 AC XY: 4AN XY: 135832
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461794Hom.: 1 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 727200
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.551C>T (p.P184L) alteration is located in exon 7 (coding exon 5) of the RPH3AL gene. This alteration results from a C to T substitution at nucleotide position 551, causing the proline (P) at amino acid position 184 to be replaced by a leucine (L). 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