rs751080433
Your query was ambiguous. Multiple possible variants found:
- chrX-11254716-CAAAAAAAAAAAA-C
- chrX-11254716-CAAAAAAAAAAAA-CA
- chrX-11254716-CAAAAAAAAAAAA-CAA
- chrX-11254716-CAAAAAAAAAAAA-CAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAA
- chrX-11254716-CAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_013427.3(ARHGAP6):c.589-21_589-10delTTTTTTTTTTTT variant causes a intron change. The variant allele was found at a frequency of 0.00000345 in 869,131 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000028 ( 0 hom., 0 hem., cov: 19)
Exomes 𝑓: 0.0000024 ( 0 hom. 1 hem. )
Consequence
ARHGAP6
NM_013427.3 intron
NM_013427.3 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.92
Publications
0 publications found
Genes affected
ARHGAP6 (HGNC:676): (Rho GTPase activating protein 6) This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| ARHGAP6 | NM_013427.3 | c.589-21_589-10delTTTTTTTTTTTT | intron_variant | Intron 1 of 12 | ENST00000337414.9 | NP_038286.2 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| ARHGAP6 | ENST00000337414.9 | c.589-21_589-10delTTTTTTTTTTTT | intron_variant | Intron 1 of 12 | 1 | NM_013427.3 | ENSP00000338967.4 |
Frequencies
GnomAD3 genomes 0.0000283 AC: 1AN: 35325Hom.: 0 Cov.: 19 show subpopulations
GnomAD3 genomes
AF:
AC:
1
AN:
35325
Hom.:
Cov.:
19
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.00000240 AC: 2AN: 833806Hom.: 0 AF XY: 0.00000413 AC XY: 1AN XY: 242252 show subpopulations
GnomAD4 exome
AF:
AC:
2
AN:
833806
Hom.:
AF XY:
AC XY:
1
AN XY:
242252
show subpopulations
African (AFR)
AF:
AC:
0
AN:
18946
American (AMR)
AF:
AC:
0
AN:
10370
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
11140
East Asian (EAS)
AF:
AC:
0
AN:
21880
South Asian (SAS)
AF:
AC:
0
AN:
19494
European-Finnish (FIN)
AF:
AC:
0
AN:
22017
Middle Eastern (MID)
AF:
AC:
0
AN:
2016
European-Non Finnish (NFE)
AF:
AC:
2
AN:
693573
Other (OTH)
AF:
AC:
0
AN:
34370
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.425
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Exome Het
Exome Hom
Variant carriers
0
2
4
6
8
10
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
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>80
Age
GnomAD4 genome 0.0000283 AC: 1AN: 35325Hom.: 0 Cov.: 19 AF XY: 0.00 AC XY: 0AN XY: 5877 show subpopulations
GnomAD4 genome
AF:
AC:
1
AN:
35325
Hom.:
Cov.:
19
AF XY:
AC XY:
0
AN XY:
5877
show subpopulations
African (AFR)
AF:
AC:
0
AN:
9248
American (AMR)
AF:
AC:
0
AN:
3292
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
954
East Asian (EAS)
AF:
AC:
0
AN:
1108
South Asian (SAS)
AF:
AC:
0
AN:
641
European-Finnish (FIN)
AF:
AC:
0
AN:
1101
Middle Eastern (MID)
AF:
AC:
0
AN:
68
European-Non Finnish (NFE)
AF:
AC:
1
AN:
18262
Other (OTH)
AF:
AC:
0
AN:
457
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.875
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Variant carriers
0
2
4
6
8
10
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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