5-81225762-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006909.3(RASGRF2):c.3706C>T(p.Pro1236Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000206 in 1,459,492 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006909.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RASGRF2 | NM_006909.3 | c.3706C>T | p.Pro1236Ser | missense_variant | Exon 27 of 27 | ENST00000265080.9 | NP_008840.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000806 AC: 2AN: 248054Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134100
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1459492Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 725980
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3706C>T (p.P1236S) alteration is located in exon 1 (coding exon 1) of the RASGRF2 gene. This alteration results from a C to T substitution at nucleotide position 3706, causing the proline (P) at amino acid position 1236 to be replaced by a serine (S). 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