18-23516323-G-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_013326.5(RMC1):c.553G>T(p.Gly185Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,614,090 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013326.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RMC1 | NM_013326.5 | c.553G>T | p.Gly185Cys | missense_variant | Exon 7 of 20 | ENST00000269221.8 | NP_037458.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RMC1 | ENST00000269221.8 | c.553G>T | p.Gly185Cys | missense_variant | Exon 7 of 20 | 1 | NM_013326.5 | ENSP00000269221.2 | ||
RMC1 | ENST00000590868.5 | c.409G>T | p.Gly137Cys | missense_variant | Exon 5 of 18 | 2 | ENSP00000467007.1 | |||
RMC1 | ENST00000615148.5 | c.553G>T | p.Gly185Cys | missense_variant | Exon 7 of 20 | 5 | ENSP00000482573.2 | |||
RMC1 | ENST00000589215.5 | n.*210G>T | non_coding_transcript_exon_variant | Exon 6 of 19 | 2 | ENSP00000467852.1 | ||||
RMC1 | ENST00000589215.5 | n.*210G>T | 3_prime_UTR_variant | Exon 6 of 19 | 2 | ENSP00000467852.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152232Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251482Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135914
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461858Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727230
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.553G>T (p.G185C) alteration is located in exon 7 (coding exon 7) of the C18orf8 gene. This alteration results from a G to T substitution at nucleotide position 553, causing the glycine (G) at amino acid position 185 to be replaced by a cysteine (C). 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