15-34897661-T-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PP2BP4BS2
The NM_014691.3(AQR):c.2288A>T(p.Asp763Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000613 in 1,614,142 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014691.3 missense
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AQR | NM_014691.3 | c.2288A>T | p.Asp763Val | missense_variant | 21/35 | ENST00000156471.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AQR | ENST00000156471.10 | c.2288A>T | p.Asp763Val | missense_variant | 21/35 | 1 | NM_014691.3 | P1 | |
AQR | ENST00000543879.6 | c.*373A>T | 3_prime_UTR_variant, NMD_transcript_variant | 21/34 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000108 AC: 27AN: 249436Hom.: 0 AF XY: 0.000148 AC XY: 20AN XY: 135356
GnomAD4 exome AF: 0.0000629 AC: 92AN: 1461812Hom.: 0 Cov.: 31 AF XY: 0.0000743 AC XY: 54AN XY: 727202
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152330Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 02, 2024 | The c.2288A>T (p.D763V) alteration is located in exon 21 (coding exon 21) of the AQR gene. This alteration results from a A to T substitution at nucleotide position 2288, causing the aspartic acid (D) at amino acid position 763 to be replaced by a valine (V). 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