rs766560217
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_170604.3(RASGRP4):c.1588G>T(p.Ala530Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,456,486 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_170604.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RASGRP4 | ENST00000615439.5 | c.1588G>T | p.Ala530Ser | missense_variant | Exon 13 of 17 | 1 | NM_170604.3 | ENSP00000479844.1 | ||
RASGRP4 | ENST00000587738.2 | c.1588G>T | p.Ala530Ser | missense_variant | Exon 13 of 17 | 5 | ENSP00000465772.1 | |||
RASGRP4 | ENST00000586305.5 | c.1546G>T | p.Ala516Ser | missense_variant | Exon 13 of 17 | 1 | ENSP00000467604.1 | |||
RASGRP4 | ENST00000454404.6 | c.1486G>T | p.Ala496Ser | missense_variant | Exon 13 of 17 | 1 | ENSP00000416463.2 | |||
RASGRP4 | ENST00000587753.5 | c.1381G>T | p.Ala461Ser | missense_variant | Exon 13 of 17 | 1 | ENSP00000468483.1 | |||
RASGRP4 | ENST00000614135.4 | c.1312G>T | p.Ala438Ser | missense_variant | Exon 12 of 16 | 5 | ENSP00000479078.1 | |||
RASGRP4 | ENST00000617966.4 | c.1297G>T | p.Ala433Ser | missense_variant | Exon 11 of 15 | 5 | ENSP00000479888.1 | |||
RASGRP4 | ENST00000622174.4 | c.1021G>T | p.Ala341Ser | missense_variant | Exon 10 of 14 | 5 | ENSP00000484345.1 | |||
RASGRP4 | ENST00000589358.5 | n.1588G>T | non_coding_transcript_exon_variant | Exon 13 of 18 | 5 | ENSP00000465742.1 | ||||
RASGRP4 | ENST00000589474.5 | n.1546G>T | non_coding_transcript_exon_variant | Exon 13 of 18 | 5 | ENSP00000466928.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1456486Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 724174
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.