18-23518925-A-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_013326.5(RMC1):āc.689A>Gā(p.His230Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000291 in 1,614,062 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 (ā ).
Frequency
Consequence
NM_013326.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RMC1 | NM_013326.5 | c.689A>G | p.His230Arg | missense_variant | Exon 8 of 20 | ENST00000269221.8 | NP_037458.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RMC1 | ENST00000269221.8 | c.689A>G | p.His230Arg | missense_variant | Exon 8 of 20 | 1 | NM_013326.5 | ENSP00000269221.2 | ||
RMC1 | ENST00000590868.5 | c.545A>G | p.His182Arg | missense_variant | Exon 6 of 18 | 2 | ENSP00000467007.1 | |||
RMC1 | ENST00000615148.5 | c.689A>G | p.His230Arg | missense_variant | Exon 8 of 20 | 5 | ENSP00000482573.2 | |||
RMC1 | ENST00000589215.5 | n.*346A>G | non_coding_transcript_exon_variant | Exon 7 of 19 | 2 | ENSP00000467852.1 | ||||
RMC1 | ENST00000589215.5 | n.*346A>G | 3_prime_UTR_variant | Exon 7 of 19 | 2 | ENSP00000467852.1 |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251464Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135906
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461866Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 727236
GnomAD4 genome AF: 0.000138 AC: 21AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.689A>G (p.H230R) alteration is located in exon 8 (coding exon 8) of the C18orf8 gene. This alteration results from a A to G substitution at nucleotide position 689, causing the histidine (H) at amino acid position 230 to be replaced by an arginine (R). 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