19-38411126-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_170604.3(RASGRP4):c.1841A>G(p.His614Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 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 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.1841A>G | p.His614Arg | missense_variant | Exon 15 of 17 | 1 | NM_170604.3 | ENSP00000479844.1 | ||
RASGRP4 | ENST00000587738.2 | c.1841A>G | p.His614Arg | missense_variant | Exon 15 of 17 | 5 | ENSP00000465772.1 | |||
RASGRP4 | ENST00000586305.5 | c.1799A>G | p.His600Arg | missense_variant | Exon 15 of 17 | 1 | ENSP00000467604.1 | |||
RASGRP4 | ENST00000454404.6 | c.1739A>G | p.His580Arg | missense_variant | Exon 15 of 17 | 1 | ENSP00000416463.2 | |||
RASGRP4 | ENST00000587753.5 | c.1634A>G | p.His545Arg | missense_variant | Exon 15 of 17 | 1 | ENSP00000468483.1 | |||
RASGRP4 | ENST00000614135.4 | c.1565A>G | p.His522Arg | missense_variant | Exon 14 of 16 | 5 | ENSP00000479078.1 | |||
RASGRP4 | ENST00000617966.4 | c.1550A>G | p.His517Arg | missense_variant | Exon 13 of 15 | 5 | ENSP00000479888.1 | |||
RASGRP4 | ENST00000622174.4 | c.1274A>G | p.His425Arg | missense_variant | Exon 12 of 14 | 5 | ENSP00000484345.1 | |||
RASGRP4 | ENST00000589358.5 | n.1841A>G | non_coding_transcript_exon_variant | Exon 15 of 18 | 5 | ENSP00000465742.1 | ||||
RASGRP4 | ENST00000589474.5 | n.1799A>G | non_coding_transcript_exon_variant | Exon 15 of 18 | 5 | ENSP00000466928.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1841A>G (p.H614R) alteration is located in exon 15 (coding exon 15) of the RASGRP4 gene. This alteration results from a A to G substitution at nucleotide position 1841, causing the histidine (H) at amino acid position 614 to be replaced by an arginine (R). 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