19-38410968-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_170604.3(RASGRP4):āc.1883C>Gā(p.Ser628Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000276 in 1,449,928 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RASGRP4 | ENST00000615439.5 | c.1883C>G | p.Ser628Cys | missense_variant | Exon 16 of 17 | 1 | NM_170604.3 | ENSP00000479844.1 | ||
RASGRP4 | ENST00000587738.2 | c.1883C>G | p.Ser628Cys | missense_variant | Exon 16 of 17 | 5 | ENSP00000465772.1 | |||
RASGRP4 | ENST00000586305.5 | c.1841C>G | p.Ser614Cys | missense_variant | Exon 16 of 17 | 1 | ENSP00000467604.1 | |||
RASGRP4 | ENST00000454404.6 | c.1781C>G | p.Ser594Cys | missense_variant | Exon 16 of 17 | 1 | ENSP00000416463.2 | |||
RASGRP4 | ENST00000587753.5 | c.1676C>G | p.Ser559Cys | missense_variant | Exon 16 of 17 | 1 | ENSP00000468483.1 | |||
RASGRP4 | ENST00000614135.4 | c.1607C>G | p.Ser536Cys | missense_variant | Exon 15 of 16 | 5 | ENSP00000479078.1 | |||
RASGRP4 | ENST00000617966.4 | c.1592C>G | p.Ser531Cys | missense_variant | Exon 14 of 15 | 5 | ENSP00000479888.1 | |||
RASGRP4 | ENST00000622174.4 | c.1316C>G | p.Ser439Cys | missense_variant | Exon 13 of 14 | 5 | ENSP00000484345.1 | |||
RASGRP4 | ENST00000589358.5 | n.1883C>G | non_coding_transcript_exon_variant | Exon 16 of 18 | 5 | ENSP00000465742.1 | ||||
RASGRP4 | ENST00000589474.5 | n.1841C>G | non_coding_transcript_exon_variant | Exon 16 of 18 | 5 | ENSP00000466928.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000883 AC: 2AN: 226382Hom.: 0 AF XY: 0.00000817 AC XY: 1AN XY: 122448
GnomAD4 exome AF: 0.00000276 AC: 4AN: 1449928Hom.: 0 Cov.: 31 AF XY: 0.00000417 AC XY: 3AN XY: 720036
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at