rs10542660
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-C
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTGTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTGTGTGTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- chrX-63637846-CTGTGTGTGTGTGTGTGTGTGTGTG-CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001353921.2(ARHGEF9):c.*158_*181delCACACACACACACACACACACACA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000937 in 213,484 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001353921.2 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARHGEF9 | NM_001353921.2 | c.*158_*181delCACACACACACACACACACACACA | 3_prime_UTR_variant | Exon 10 of 10 | ENST00000671741.2 | NP_001340850.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARHGEF9 | ENST00000671741 | c.*158_*181delCACACACACACACACACACACACA | 3_prime_UTR_variant | Exon 10 of 10 | NM_001353921.2 | ENSP00000500715.1 |
Frequencies
GnomAD3 genomes Cov.: 12
GnomAD4 exome AF: 0.00000937 AC: 2AN: 213484Hom.: 0 AF XY: 0.0000314 AC XY: 2AN XY: 63654
GnomAD4 genome Cov.: 12
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.