1-32679679-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_005610.3(RBBP4):c.1252G>A(p.Val418Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000237 in 1,606,608 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_005610.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBBP4 | NM_005610.3 | c.1252G>A | p.Val418Met | missense_variant | Exon 12 of 12 | ENST00000373493.10 | NP_005601.1 | |
RBBP4 | NM_001135255.2 | c.1249G>A | p.Val417Met | missense_variant | Exon 12 of 12 | NP_001128727.1 | ||
RBBP4 | NM_001135256.2 | c.1147G>A | p.Val383Met | missense_variant | Exon 12 of 12 | NP_001128728.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBBP4 | ENST00000373493.10 | c.1252G>A | p.Val418Met | missense_variant | Exon 12 of 12 | 1 | NM_005610.3 | ENSP00000362592.4 | ||
RBBP4 | ENST00000482190.1 | c.471G>A | p.Ala157Ala | synonymous_variant | Exon 6 of 7 | 3 | ENSP00000436565.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000371 AC: 9AN: 242730Hom.: 0 AF XY: 0.0000533 AC XY: 7AN XY: 131358
GnomAD4 exome AF: 0.0000248 AC: 36AN: 1454442Hom.: 0 Cov.: 29 AF XY: 0.0000249 AC XY: 18AN XY: 723522
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1252G>A (p.V418M) alteration is located in exon 12 (coding exon 12) of the RBBP4 gene. This alteration results from a G to A substitution at nucleotide position 1252, causing the valine (V) at amino acid position 418 to be replaced by a methionine (M). 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