rs61737287
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_173833.6(SCARA5):c.1412G>C(p.Arg471Pro) 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. 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. R471C) has been classified as Uncertain significance.
Frequency
Consequence
NM_173833.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SCARA5 | NM_173833.6 | c.1412G>C | p.Arg471Pro | missense_variant | 9/9 | ENST00000354914.8 | |
SCARA5 | NM_001413201.1 | c.1283G>C | p.Arg428Pro | missense_variant | 8/8 | ||
SCARA5 | NM_001413203.1 | c.608G>C | p.Arg203Pro | missense_variant | 8/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SCARA5 | ENST00000354914.8 | c.1412G>C | p.Arg471Pro | missense_variant | 9/9 | 2 | NM_173833.6 | P1 | |
SCARA5 | ENST00000380385.6 | c.737G>C | p.Arg246Pro | missense_variant | 8/8 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.