rs534888589
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000271.5(NPC1):c.*191C>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000741 in 1,349,070 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_000271.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NPC1 | ENST00000269228 | c.*191C>G | 3_prime_UTR_variant | Exon 25 of 25 | 1 | NM_000271.5 | ENSP00000269228.4 | |||
RMC1 | ENST00000269221.8 | c.*307G>C | downstream_gene_variant | 1 | NM_013326.5 | ENSP00000269221.2 | ||||
RMC1 | ENST00000590868.5 | c.*307G>C | downstream_gene_variant | 2 | ENSP00000467007.1 | |||||
RMC1 | ENST00000615148.5 | c.*327G>C | downstream_gene_variant | 5 | ENSP00000482573.2 | |||||
RMC1 | ENST00000589215.5 | n.*1814G>C | downstream_gene_variant | 2 | ENSP00000467852.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.41e-7 AC: 1AN: 1349070Hom.: 0 Cov.: 31 AF XY: 0.00000151 AC XY: 1AN XY: 661694
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.