7-142908799-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019841.7(TRPV5):c.1905C>A(p.Asn635Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000891 in 1,458,468 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_019841.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRPV5 | NM_019841.7 | c.1905C>A | p.Asn635Lys | 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.1905C>A | p.Asn635Lys | missense_variant | Exon 15 of 15 | 1 | NM_019841.7 | ENSP00000265310.1 | ||
TRPV5 | ENST00000439304.5 | c.1740C>A | p.Asn580Lys | missense_variant | Exon 14 of 14 | 5 | ENSP00000406361.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 247112Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133752
GnomAD4 exome AF: 0.00000891 AC: 13AN: 1458468Hom.: 0 Cov.: 31 AF XY: 0.00000552 AC XY: 4AN XY: 725176
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1905C>A (p.N635K) alteration is located in exon 15 (coding exon 15) of the TRPV5 gene. This alteration results from a C to A substitution at nucleotide position 1905, causing the asparagine (N) at amino acid position 635 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at