NM_019841.7:c.1928G>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_019841.7(TRPV5):āc.1928G>Cā(p.Arg643Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000291 in 1,613,248 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. R643Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_019841.7 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 |
---|---|---|---|---|---|---|---|---|
TRPV5 | NM_019841.7 | c.1928G>C | p.Arg643Pro | missense_variant | Exon 15 of 15 | ENST00000265310.6 | NP_062815.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRPV5 | ENST00000265310.6 | c.1928G>C | p.Arg643Pro | missense_variant | Exon 15 of 15 | 1 | NM_019841.7 | ENSP00000265310.1 | ||
TRPV5 | ENST00000439304.5 | c.1763G>C | p.Arg588Pro | missense_variant | Exon 14 of 14 | 5 | ENSP00000406361.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000321 AC: 8AN: 249594Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 134956
GnomAD4 exome AF: 0.0000308 AC: 45AN: 1461070Hom.: 0 Cov.: 31 AF XY: 0.0000330 AC XY: 24AN XY: 726848
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74338
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at