chr15-88857108-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001369268.1(ACAN):āc.4523A>Gā(p.Glu1508Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,612,944 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E1508A) has been classified as Benign.
Frequency
Consequence
NM_001369268.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACAN | NM_001369268.1 | c.4523A>G | p.Glu1508Gly | missense_variant | 12/19 | ENST00000560601.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACAN | ENST00000560601.4 | c.4523A>G | p.Glu1508Gly | missense_variant | 12/19 | 3 | NM_001369268.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000396 AC: 6AN: 151330Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249176Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135202
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461614Hom.: 0 Cov.: 80 AF XY: 0.00000138 AC XY: 1AN XY: 727094
GnomAD4 genome AF: 0.0000396 AC: 6AN: 151330Hom.: 0 Cov.: 31 AF XY: 0.0000406 AC XY: 3AN XY: 73870
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at