7-142908602-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_019841.7(TRPV5):c.2102G>C(p.Trp701Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000211 in 1,614,122 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar 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.2102G>C | p.Trp701Ser | 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.2102G>C | p.Trp701Ser | missense_variant | Exon 15 of 15 | 1 | NM_019841.7 | ENSP00000265310.1 | ||
TRPV5 | ENST00000439304.5 | c.1937G>C | p.Trp646Ser | missense_variant | Exon 14 of 14 | 5 | ENSP00000406361.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000111 AC: 28AN: 251494Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135922
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461894Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 727248
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2102G>C (p.W701S) alteration is located in exon 15 (coding exon 15) of the TRPV5 gene. This alteration results from a G to C substitution at nucleotide position 2102, causing the tryptophan (W) at amino acid position 701 to be replaced by a serine (S). 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