rs10521536
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_012471.3(TRPC5):c.900+17967T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.166 in 111,472 control chromosomes in the GnomAD database, including 2,797 homozygotes. There are 5,064 hemizygotes in GnomAD. 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
Consequence
NM_012471.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRPC5OS | NM_001195578.2 | c.-545-1627A>G | intron_variant | ENST00000635763.2 | |||
TRPC5 | NM_012471.3 | c.900+17967T>C | intron_variant | ENST00000262839.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPC5 | ENST00000262839.3 | c.900+17967T>C | intron_variant | 1 | NM_012471.3 | P1 | |||
TRPC5OS | ENST00000635763.2 | c.-545-1627A>G | intron_variant | 2 | NM_001195578.2 | P1 | |||
TRPC5OS | ENST00000371970.2 | c.-545-1627A>G | intron_variant | 1 | P1 | ||||
TRPC5OS | ENST00000612026.5 | c.-545-1627A>G | intron_variant | 3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.166 AC: 18474AN: 111421Hom.: 2798 Cov.: 22 AF XY: 0.149 AC XY: 5021AN XY: 33625
GnomAD4 genome ? AF: 0.166 AC: 18520AN: 111472Hom.: 2797 Cov.: 22 AF XY: 0.150 AC XY: 5064AN XY: 33686
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at