chr15-89477569-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016321.3(RHCG):c.1060G>A(p.Val354Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000812 in 1,614,124 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_016321.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RHCG | NM_016321.3 | c.1060G>A | p.Val354Met | missense_variant | Exon 7 of 11 | ENST00000268122.9 | NP_057405.1 | |
RHCG | NM_001321041.2 | c.1060G>A | p.Val354Met | missense_variant | Exon 7 of 11 | NP_001307970.1 | ||
RHCG | XM_047432651.1 | c.1060G>A | p.Val354Met | missense_variant | Exon 7 of 11 | XP_047288607.1 | ||
RHCG | NR_110261.2 | n.1023G>A | non_coding_transcript_exon_variant | Exon 7 of 11 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000401 AC: 61AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000103 AC: 26AN: 251352Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135878
GnomAD4 exome AF: 0.0000479 AC: 70AN: 1461856Hom.: 0 Cov.: 32 AF XY: 0.0000440 AC XY: 32AN XY: 727228
GnomAD4 genome AF: 0.000401 AC: 61AN: 152268Hom.: 0 Cov.: 32 AF XY: 0.000416 AC XY: 31AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1060G>A (p.V354M) alteration is located in exon 7 (coding exon 7) of the RHCG gene. This alteration results from a G to A substitution at nucleotide position 1060, causing the valine (V) at amino acid position 354 to be replaced by a methionine (M). 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