chr2-96551155-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_212481.3(ARID5A):c.627G>T(p.Gln209His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000165 in 1,613,804 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_212481.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARID5A | NM_212481.3 | c.627G>T | p.Gln209His | missense_variant | 7/7 | ENST00000357485.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID5A | ENST00000357485.8 | c.627G>T | p.Gln209His | missense_variant | 7/7 | 1 | NM_212481.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152184Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000837 AC: 21AN: 250818Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135608
GnomAD4 exome AF: 0.000171 AC: 250AN: 1461502Hom.: 0 Cov.: 31 AF XY: 0.000177 AC XY: 129AN XY: 727086
GnomAD4 genome AF: 0.000105 AC: 16AN: 152302Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 01, 2022 | The c.627G>T (p.Q209H) alteration is located in exon 7 (coding exon 7) of the ARID5A gene. This alteration results from a G to T substitution at nucleotide position 627, causing the glutamine (Q) at amino acid position 209 to be replaced by a histidine (H). 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