1-161047951-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001025598.2(ARHGAP30):c.3070G>A(p.Gly1024Ser) 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. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001025598.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARHGAP30 | ENST00000368013.8 | c.3070G>A | p.Gly1024Ser | missense_variant | Exon 12 of 12 | 2 | NM_001025598.2 | ENSP00000356992.3 | ||
ARHGAP30 | ENST00000368015.1 | c.2539G>A | p.Gly847Ser | missense_variant | Exon 8 of 8 | 5 | ENSP00000356994.1 | |||
ARHGAP30 | ENST00000368016.7 | c.2437G>A | p.Gly813Ser | missense_variant | Exon 13 of 13 | 5 | ENSP00000356995.3 | |||
ARHGAP30 | ENST00000461003.5 | n.3852G>A | non_coding_transcript_exon_variant | Exon 10 of 10 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 38
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3070G>A (p.G1024S) alteration is located in exon 12 (coding exon 12) of the ARHGAP30 gene. This alteration results from a G to A substitution at nucleotide position 3070, causing the glycine (G) at amino acid position 1024 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
Publications
No publications associated with this variant yet.