X-131083194-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_144967.4(ARHGAP36):c.283G>A(p.Asp95Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000868 in 1,209,875 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 27 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 Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGAP36 | NM_144967.4 | c.283G>A | p.Asp95Asn | missense_variant | 3/12 | ENST00000276211.10 | |
ARHGAP36 | NM_001282607.2 | c.247G>A | p.Asp83Asn | missense_variant | 3/12 | ||
ARHGAP36 | NM_001330651.1 | c.-126G>A | 5_prime_UTR_variant | 2/11 | |||
ARHGAP36 | XM_011531280.2 | c.-126G>A | 5_prime_UTR_variant | 2/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP36 | ENST00000276211.10 | c.283G>A | p.Asp95Asn | missense_variant | 3/12 | 2 | NM_144967.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000267 AC: 3AN: 112491Hom.: 0 Cov.: 24 AF XY: 0.0000289 AC XY: 1AN XY: 34657
GnomAD3 exomes AF: 0.0000770 AC: 14AN: 181818Hom.: 0 AF XY: 0.0000452 AC XY: 3AN XY: 66410
GnomAD4 exome AF: 0.0000929 AC: 102AN: 1097384Hom.: 0 Cov.: 29 AF XY: 0.0000717 AC XY: 26AN XY: 362772
GnomAD4 genome AF: 0.0000267 AC: 3AN: 112491Hom.: 0 Cov.: 24 AF XY: 0.0000289 AC XY: 1AN XY: 34657
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 10, 2023 | The c.283G>A (p.D95N) alteration is located in exon 3 (coding exon 2) of the ARHGAP36 gene. This alteration results from a G to A substitution at nucleotide position 283, causing the aspartic acid (D) at amino acid position 95 to be replaced by an asparagine (N). 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