rs121912762
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PP5BP4BS2_Supporting
The NM_016124.6(RHD):āc.329T>Cā(p.Leu110Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00146 in 1,388,154 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Consequence
NM_016124.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RHD | NM_016124.6 | c.329T>C | p.Leu110Pro | missense_variant | 2/10 | ENST00000328664.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RHD | ENST00000328664.9 | c.329T>C | p.Leu110Pro | missense_variant | 2/10 | 1 | NM_016124.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000951 AC: 128AN: 134564Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000902 AC: 203AN: 225034Hom.: 1 AF XY: 0.000981 AC XY: 119AN XY: 121264
GnomAD4 exome AF: 0.00151 AC: 1897AN: 1253478Hom.: 6 Cov.: 34 AF XY: 0.00153 AC XY: 954AN XY: 625232
GnomAD4 genome ? AF: 0.000950 AC: 128AN: 134676Hom.: 1 Cov.: 32 AF XY: 0.00104 AC XY: 69AN XY: 66166
ClinVar
Submissions by phenotype
RhD category D-VII Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | May 01, 1995 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at