rs147536237
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001378107.1(R3HDM1):āc.1430C>Gā(p.Ala477Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000116 in 1,461,804 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. A477V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001378107.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
R3HDM1 | NM_001378107.1 | c.1430C>G | p.Ala477Gly | missense_variant | Exon 15 of 27 | ENST00000683871.1 | NP_001365036.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
R3HDM1 | ENST00000683871.1 | c.1430C>G | p.Ala477Gly | missense_variant | Exon 15 of 27 | NM_001378107.1 | ENSP00000506980.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251336Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135842
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461804Hom.: 0 Cov.: 30 AF XY: 0.0000165 AC XY: 12AN XY: 727208
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at