rs199691980
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_173728.4(ARHGEF15):c.1260+4G>A variant causes a splice region, intron change. The variant allele was found at a frequency of 0.00163 in 1,612,698 control chromosomes in the GnomAD database, including 25 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_173728.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARHGEF15 | NM_173728.4 | c.1260+4G>A | splice_region_variant, intron_variant | Intron 6 of 15 | ENST00000361926.8 | NP_776089.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARHGEF15 | ENST00000361926.8 | c.1260+4G>A | splice_region_variant, intron_variant | Intron 6 of 15 | 1 | NM_173728.4 | ENSP00000355026.3 | |||
ARHGEF15 | ENST00000421050.2 | c.1260+4G>A | splice_region_variant, intron_variant | Intron 6 of 15 | 1 | ENSP00000412505.1 | ||||
ARHGEF15 | ENST00000647883.1 | c.723+4G>A | splice_region_variant, intron_variant | Intron 3 of 12 | ENSP00000498197.1 | |||||
ARHGEF15 | ENST00000578286.1 | n.308+4G>A | splice_region_variant, intron_variant | Intron 2 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00122 AC: 185AN: 152118Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.00252 AC: 624AN: 247896Hom.: 9 AF XY: 0.00326 AC XY: 439AN XY: 134568
GnomAD4 exome AF: 0.00168 AC: 2447AN: 1460462Hom.: 24 Cov.: 33 AF XY: 0.00208 AC XY: 1509AN XY: 726492
GnomAD4 genome AF: 0.00122 AC: 186AN: 152236Hom.: 1 Cov.: 31 AF XY: 0.00136 AC XY: 101AN XY: 74442
ClinVar
Submissions by phenotype
not specified Benign:1
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Early infantile epileptic encephalopathy with suppression bursts Benign:1
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ARHGEF15-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at