rs1053344
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_020485.8(RHCE):c.203A>G(p.Asn68Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000156 in 121,430 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_020485.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RHCE | NM_020485.8 | c.203A>G | p.Asn68Ser | missense_variant | 2/10 | ENST00000294413.13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RHCE | ENST00000294413.13 | c.203A>G | p.Asn68Ser | missense_variant | 2/10 | 1 | NM_020485.8 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000156 AC: 19AN: 121430Hom.: 1 Cov.: 20
GnomAD3 exomes AF: 0.0000370 AC: 7AN: 189074Hom.: 0 AF XY: 0.0000198 AC XY: 2AN XY: 101096
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000603 AC: 70AN: 1160314Hom.: 4 Cov.: 30 AF XY: 0.0000577 AC XY: 33AN XY: 571978
GnomAD4 genome ? AF: 0.000156 AC: 19AN: 121430Hom.: 1 Cov.: 20 AF XY: 0.000138 AC XY: 8AN XY: 58058
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at