18-23527897-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_013326.5(RMC1):c.1292C>T(p.Ala431Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000806 in 1,612,394 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. 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 Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RMC1 | NM_013326.5 | c.1292C>T | p.Ala431Val | missense_variant | Exon 14 of 20 | ENST00000269221.8 | NP_037458.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RMC1 | ENST00000269221.8 | c.1292C>T | p.Ala431Val | missense_variant | Exon 14 of 20 | 1 | NM_013326.5 | ENSP00000269221.2 | ||
RMC1 | ENST00000590868.5 | c.1148C>T | p.Ala383Val | missense_variant | Exon 12 of 18 | 2 | ENSP00000467007.1 | |||
RMC1 | ENST00000615148.5 | c.1292C>T | p.Ala431Val | missense_variant | Exon 14 of 20 | 5 | ENSP00000482573.2 | |||
RMC1 | ENST00000589215.5 | n.*949C>T | non_coding_transcript_exon_variant | Exon 13 of 19 | 2 | ENSP00000467852.1 | ||||
RMC1 | ENST00000589215.5 | n.*949C>T | 3_prime_UTR_variant | Exon 13 of 19 | 2 | ENSP00000467852.1 |
Frequencies
GnomAD3 genomes AF: 0.000447 AC: 68AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000336 AC: 84AN: 250280Hom.: 0 AF XY: 0.000318 AC XY: 43AN XY: 135288
GnomAD4 exome AF: 0.000843 AC: 1231AN: 1460110Hom.: 3 Cov.: 30 AF XY: 0.000786 AC XY: 571AN XY: 726394
GnomAD4 genome AF: 0.000447 AC: 68AN: 152284Hom.: 0 Cov.: 32 AF XY: 0.000403 AC XY: 30AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1292C>T (p.A431V) alteration is located in exon 14 (coding exon 14) of the C18orf8 gene. This alteration results from a C to T substitution at nucleotide position 1292, causing the alanine (A) at amino acid position 431 to be replaced by a valine (V). 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