chr15-34857006-G-C
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 1P and 8B. PP2BP4_StrongBS2
The NM_014691.3(AQR):c.4244C>G(p.Ala1415Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,613,966 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 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 Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AQR | NM_014691.3 | c.4244C>G | p.Ala1415Gly | missense_variant | 35/35 | ENST00000156471.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AQR | ENST00000156471.10 | c.4244C>G | p.Ala1415Gly | missense_variant | 35/35 | 1 | NM_014691.3 | P1 | |
AQR | ENST00000559090.5 | n.3131C>G | non_coding_transcript_exon_variant | 4/4 | 1 | ||||
AQR | ENST00000559767.1 | n.573C>G | non_coding_transcript_exon_variant | 3/3 | 2 | ||||
AQR | ENST00000543879.6 | c.*3006C>G | 3_prime_UTR_variant, NMD_transcript_variant | 34/34 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152094Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249542Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135380
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461872Hom.: 0 Cov.: 40 AF XY: 0.0000138 AC XY: 10AN XY: 727240
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152094Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74290
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 22, 2021 | The c.4244C>G (p.A1415G) alteration is located in exon 35 (coding exon 35) of the AQR gene. This alteration results from a C to G substitution at nucleotide position 4244, causing the alanine (A) at amino acid position 1415 to be replaced by a glycine (G). 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