chr8-23293346-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001136108.3(R3HCC1):c.1069C>T(p.Leu357Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,174 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
R3HCC1 | NM_001136108.3 | c.1069C>T | p.Leu357Phe | missense_variant | Exon 6 of 8 | ENST00000265806.12 | NP_001129580.2 | |
R3HCC1 | NM_001301650.2 | c.943C>T | p.Leu315Phe | missense_variant | Exon 7 of 9 | NP_001288579.1 | ||
R3HCC1 | NR_125897.1 | n.1038C>T | non_coding_transcript_exon_variant | Exon 7 of 9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
R3HCC1 | ENST00000265806.12 | c.1069C>T | p.Leu357Phe | missense_variant | Exon 6 of 8 | 1 | NM_001136108.3 | ENSP00000265806.8 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.508C>T (p.L170F) alteration is located in exon 6 (coding exon 3) of the R3HCC1 gene. This alteration results from a C to T substitution at nucleotide position 508, causing the leucine (L) at amino acid position 170 to be replaced by a phenylalanine (F). 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