rs747837865
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_006506.5(RASA2):c.13_15delGCG(p.Ala5del) variant causes a conservative inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000243 in 1,356,082 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006506.5 conservative_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RASA2 | NM_006506.5 | c.13_15delGCG | p.Ala5del | conservative_inframe_deletion | Exon 1 of 24 | ENST00000286364.9 | NP_006497.2 | |
RASA2 | NM_001303246.3 | c.13_15delGCG | p.Ala5del | conservative_inframe_deletion | Exon 1 of 25 | NP_001290175.1 | ||
RASA2 | NM_001303245.3 | c.13_15delGCG | p.Ala5del | conservative_inframe_deletion | Exon 1 of 24 | NP_001290174.1 | ||
RASA2 | XM_047448652.1 | c.13_15delGCG | p.Ala5del | conservative_inframe_deletion | Exon 1 of 17 | XP_047304608.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RASA2 | ENST00000286364.9 | c.13_15delGCG | p.Ala5del | conservative_inframe_deletion | Exon 1 of 24 | 1 | NM_006506.5 | ENSP00000286364.3 | ||
RASA2 | ENST00000515549.1 | n.13_15delGCG | non_coding_transcript_exon_variant | Exon 1 of 5 | 4 | ENSP00000424293.1 |
Frequencies
GnomAD3 genomes AF: 0.00000668 AC: 1AN: 149682Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000899 AC: 5AN: 55636Hom.: 0 AF XY: 0.0000967 AC XY: 3AN XY: 31016
GnomAD4 exome AF: 0.0000265 AC: 32AN: 1206400Hom.: 0 AF XY: 0.0000253 AC XY: 15AN XY: 591734
GnomAD4 genome AF: 0.00000668 AC: 1AN: 149682Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73044
ClinVar
Submissions by phenotype
not provided Uncertain:1
This variant, c.13_15del, results in the deletion of 1 amino acid(s) of the RASA2 protein (p.Ala5del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with RASA2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at