5-81086843-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_006909.3(RASGRF2):āc.1280A>Cā(p.His427Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,852 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006909.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RASGRF2 | NM_006909.3 | c.1280A>C | p.His427Pro | missense_variant | 9/27 | ENST00000265080.9 | NP_008840.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RASGRF2 | ENST00000265080.9 | c.1280A>C | p.His427Pro | missense_variant | 9/27 | 1 | NM_006909.3 | ENSP00000265080.4 | ||
RASGRF2 | ENST00000503795.1 | n.1280A>C | non_coding_transcript_exon_variant | 9/28 | 1 | ENSP00000421771.1 | ||||
RASGRF2 | ENST00000638442.1 | c.1280A>C | p.His427Pro | missense_variant | 9/10 | 5 | ENSP00000491428.1 | |||
RASGRF2 | ENST00000502677.1 | n.1205A>C | non_coding_transcript_exon_variant | 6/7 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459852Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726404
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 23, 2024 | The c.1280A>C (p.H427P) alteration is located in exon 1 (coding exon 1) of the RASGRF2 gene. This alteration results from a A to C substitution at nucleotide position 1280, causing the histidine (H) at amino acid position 427 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.