8-23294810-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001136108.3(R3HCC1):c.1138C>T(p.Arg380Trp) variant causes a missense change. The variant allele was found at a frequency of 0.00000429 in 1,399,250 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001136108.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
R3HCC1 | NM_001136108.3 | c.1138C>T | p.Arg380Trp | missense_variant | Exon 7 of 8 | ENST00000265806.12 | NP_001129580.2 | |
R3HCC1 | NM_001301650.2 | c.1012C>T | p.Arg338Trp | missense_variant | Exon 8 of 9 | NP_001288579.1 | ||
R3HCC1 | NR_125897.1 | n.1107C>T | non_coding_transcript_exon_variant | Exon 8 of 9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
R3HCC1 | ENST00000265806.12 | c.1138C>T | p.Arg380Trp | missense_variant | Exon 7 of 8 | 1 | NM_001136108.3 | ENSP00000265806.8 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000641 AC: 1AN: 155946Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 82686
GnomAD4 exome AF: 0.00000429 AC: 6AN: 1399250Hom.: 0 Cov.: 30 AF XY: 0.00000725 AC XY: 5AN XY: 690124
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.577C>T (p.R193W) alteration is located in exon 7 (coding exon 4) of the R3HCC1 gene. This alteration results from a C to T substitution at nucleotide position 577, causing the arginine (R) at amino acid position 193 to be replaced by a tryptophan (W). 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