chr15-88856926-G-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001369268.1(ACAN):c.4341G>T(p.Glu1447Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000255 in 1,568,372 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin ClinVar.
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.4341G>T | p.Glu1447Asp | missense_variant | 12/19 | ENST00000560601.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACAN | ENST00000560601.4 | c.4341G>T | p.Glu1447Asp | missense_variant | 12/19 | 3 | NM_001369268.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000153 AC: 2AN: 131112Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.0000264 AC: 38AN: 1437260Hom.: 0 Cov.: 42 AF XY: 0.0000196 AC XY: 14AN XY: 715376
GnomAD4 genome AF: 0.0000153 AC: 2AN: 131112Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 64586
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at