4-40432709-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001098634.2(RBM47):c.1484C>T(p.Ala495Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,605,688 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A495T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001098634.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBM47 | NM_001098634.2 | c.1484C>T | p.Ala495Val | missense_variant | 6/7 | ENST00000295971.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBM47 | ENST00000295971.12 | c.1484C>T | p.Ala495Val | missense_variant | 6/7 | 5 | NM_001098634.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000332 AC: 5AN: 150678Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000411 AC: 1AN: 243272Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132340
GnomAD4 exome AF: 0.0000124 AC: 18AN: 1455010Hom.: 0 Cov.: 32 AF XY: 0.0000111 AC XY: 8AN XY: 723896
GnomAD4 genome AF: 0.0000332 AC: 5AN: 150678Hom.: 0 Cov.: 32 AF XY: 0.0000680 AC XY: 5AN XY: 73562
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 05, 2022 | The c.1484C>T (p.A495V) alteration is located in exon 6 (coding exon 3) of the RBM47 gene. This alteration results from a C to T substitution at nucleotide position 1484, causing the alanine (A) at amino acid position 495 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