chr2-160277353-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_016836.4(RBMS1):c.1093G>A(p.Ala365Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000031 in 1,613,626 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016836.4 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 |
---|---|---|---|---|---|---|---|---|
RBMS1 | NM_016836.4 | c.1093G>A | p.Ala365Thr | missense_variant | Exon 12 of 14 | ENST00000348849.8 | NP_058520.1 | |
RBMS1 | NM_002897.5 | c.1084G>A | p.Ala362Thr | missense_variant | Exon 12 of 14 | NP_002888.1 | ||
RBMS1 | XM_047445368.1 | c.1141G>A | p.Ala381Thr | missense_variant | Exon 13 of 14 | XP_047301324.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000676 AC: 17AN: 251378Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135854
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461304Hom.: 0 Cov.: 30 AF XY: 0.0000550 AC XY: 40AN XY: 726956
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152322Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1093G>A (p.A365T) alteration is located in exon 12 (coding exon 12) of the RBMS1 gene. This alteration results from a G to A substitution at nucleotide position 1093, causing the alanine (A) at amino acid position 365 to be replaced by a threonine (T). 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