rs201505307
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001369268.1(ACAN):āc.4341G>Cā(p.Glu1447Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000534 in 131,048 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. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_001369268.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACAN | NM_001369268.1 | c.4341G>C | 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>C | p.Glu1447Asp | missense_variant | 12/19 | 3 | NM_001369268.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000535 AC: 70AN: 130954Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000242 AC: 6AN: 248098Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134646
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000188 AC: 27AN: 1437086Hom.: 0 Cov.: 42 AF XY: 0.0000224 AC XY: 16AN XY: 715296
GnomAD4 genome ? AF: 0.000534 AC: 70AN: 131048Hom.: 0 Cov.: 31 AF XY: 0.000511 AC XY: 33AN XY: 64624
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 29, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 0.6% of African chromosomes in ExAC, frequency high for disorder - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at