NM_032120.4:c.8C>T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_032120.4(RBM48):c.8C>T(p.Ser3Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00135 in 1,613,860 control chromosomes in the GnomAD database, including 28 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_032120.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBM48 | ENST00000265732.10 | c.8C>T | p.Ser3Leu | missense_variant | Exon 1 of 5 | 1 | NM_032120.4 | ENSP00000265732.5 | ||
RBM48 | ENST00000481551.5 | c.8C>T | p.Ser3Leu | missense_variant | Exon 1 of 4 | 1 | ENSP00000419242.1 | |||
RBM48 | ENST00000496410 | c.-426C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 3 | 3 | ENSP00000418333.1 | ||||
RBM48 | ENST00000496410 | c.-426C>T | 5_prime_UTR_variant | Exon 1 of 3 | 3 | ENSP00000418333.1 |
Frequencies
GnomAD3 genomes AF: 0.00733 AC: 1115AN: 152170Hom.: 16 Cov.: 32
GnomAD3 exomes AF: 0.00173 AC: 431AN: 248726Hom.: 7 AF XY: 0.00126 AC XY: 170AN XY: 135148
GnomAD4 exome AF: 0.000726 AC: 1061AN: 1461572Hom.: 12 Cov.: 31 AF XY: 0.000593 AC XY: 431AN XY: 727074
GnomAD4 genome AF: 0.00736 AC: 1121AN: 152288Hom.: 16 Cov.: 32 AF XY: 0.00712 AC XY: 530AN XY: 74478
ClinVar
Submissions by phenotype
not provided Benign:3
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at