X-131085687-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_144967.4(ARHGAP36):āc.1055A>Gā(p.His352Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000835 in 1,210,009 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 40 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_144967.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGAP36 | NM_144967.4 | c.1055A>G | p.His352Arg | missense_variant | 8/12 | ENST00000276211.10 | |
ARHGAP36 | NM_001282607.2 | c.1019A>G | p.His340Arg | missense_variant | 8/12 | ||
ARHGAP36 | NM_001330651.1 | c.647A>G | p.His216Arg | missense_variant | 7/11 | ||
ARHGAP36 | XM_011531280.2 | c.647A>G | p.His216Arg | missense_variant | 7/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP36 | ENST00000276211.10 | c.1055A>G | p.His352Arg | missense_variant | 8/12 | 2 | NM_144967.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000537 AC: 6AN: 111803Hom.: 0 Cov.: 22 AF XY: 0.0000589 AC XY: 2AN XY: 33959
GnomAD3 exomes AF: 0.0000491 AC: 9AN: 183348Hom.: 0 AF XY: 0.0000295 AC XY: 2AN XY: 67780
GnomAD4 exome AF: 0.0000865 AC: 95AN: 1098206Hom.: 0 Cov.: 31 AF XY: 0.000105 AC XY: 38AN XY: 363562
GnomAD4 genome AF: 0.0000537 AC: 6AN: 111803Hom.: 0 Cov.: 22 AF XY: 0.0000589 AC XY: 2AN XY: 33959
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 03, 2022 | The c.1055A>G (p.H352R) alteration is located in exon 8 (coding exon 7) of the ARHGAP36 gene. This alteration results from a A to G substitution at nucleotide position 1055, causing the histidine (H) at amino acid position 352 to be replaced by an arginine (R). 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