8-23294786-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001136108.3(R3HCC1):c.1114C>T(p.Arg372Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000967 in 1,551,102 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
R3HCC1 | NM_001136108.3 | c.1114C>T | p.Arg372Trp | missense_variant | 7/8 | ENST00000265806.12 | NP_001129580.2 | |
R3HCC1 | NM_001301650.2 | c.988C>T | p.Arg330Trp | missense_variant | 8/9 | NP_001288579.1 | ||
R3HCC1 | NR_125897.1 | n.1083C>T | non_coding_transcript_exon_variant | 8/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
R3HCC1 | ENST00000265806.12 | c.1114C>T | p.Arg372Trp | missense_variant | 7/8 | 1 | NM_001136108.3 | ENSP00000265806 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152022Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000642 AC: 1AN: 155646Hom.: 0 AF XY: 0.0000121 AC XY: 1AN XY: 82526
GnomAD4 exome AF: 0.00000929 AC: 13AN: 1399080Hom.: 0 Cov.: 30 AF XY: 0.0000101 AC XY: 7AN XY: 690040
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152022Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74258
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 29, 2021 | The c.553C>T (p.R185W) 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 553, causing the arginine (R) at amino acid position 185 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