X-131086635-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_144967.4(ARHGAP36):c.1456G>A(p.Val486Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,210,293 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 5 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_144967.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGAP36 | NM_144967.4 | c.1456G>A | p.Val486Ile | missense_variant | 11/12 | ENST00000276211.10 | |
ARHGAP36 | NM_001282607.2 | c.1420G>A | p.Val474Ile | missense_variant | 11/12 | ||
ARHGAP36 | NM_001330651.1 | c.1048G>A | p.Val350Ile | missense_variant | 10/11 | ||
ARHGAP36 | XM_011531280.2 | c.1048G>A | p.Val350Ile | missense_variant | 10/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP36 | ENST00000276211.10 | c.1456G>A | p.Val486Ile | missense_variant | 11/12 | 2 | NM_144967.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000268 AC: 3AN: 112130Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34280
GnomAD3 exomes AF: 0.00000545 AC: 1AN: 183443Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67873
GnomAD4 exome AF: 0.0000164 AC: 18AN: 1098163Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 5AN XY: 363525
GnomAD4 genome AF: 0.0000268 AC: 3AN: 112130Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34280
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 03, 2022 | The c.1456G>A (p.V486I) alteration is located in exon 11 (coding exon 10) of the ARHGAP36 gene. This alteration results from a G to A substitution at nucleotide position 1456, causing the valine (V) at amino acid position 486 to be replaced by an isoleucine (I). 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