rs4252431
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_019841.7(TRPV5):c.910-376T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00189 in 152,230 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0019 ( 1 hom., cov: 32)
Consequence
TRPV5
NM_019841.7 intron
NM_019841.7 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.573
Genes affected
TRPV5 (HGNC:3145): (transient receptor potential cation channel subfamily V member 5) This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRPV5 | NM_019841.7 | c.910-376T>A | intron_variant | ENST00000265310.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPV5 | ENST00000265310.6 | c.910-376T>A | intron_variant | 1 | NM_019841.7 | P1 | |||
TRPV5 | ENST00000442623.1 | c.910-376T>A | intron_variant | 1 | |||||
TRPV5 | ENST00000439304.5 | c.745-376T>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00185 AC: 281AN: 152112Hom.: 1 Cov.: 32
GnomAD3 genomes
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281
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152112
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.00189 AC: 287AN: 152230Hom.: 1 Cov.: 32 AF XY: 0.00191 AC XY: 142AN XY: 74438
GnomAD4 genome
?
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287
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152230
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32
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142
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74438
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at