rs137853213
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PS1_ModerateBP6_Very_Strong
The NM_001852.4(COL9A2):c.976_977inv(p.Gln326Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely pathogenicin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q326R) has been classified as Benign.
Frequency
Consequence
NM_001852.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL9A2 | NM_001852.4 | c.976_977inv | p.Gln326Trp | missense_variant | 19/32 | ENST00000372748.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL9A2 | ENST00000372748.8 | c.976_977inv | p.Gln326Trp | missense_variant | 19/32 | 1 | NM_001852.4 | P1 | |
COL9A2 | ENST00000482722.5 | n.1279_1280inv | non_coding_transcript_exon_variant | 18/31 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | May 24, 2018 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Intervertebral disc disease, susceptibility to Uncertain:1
Uncertain significance, no assertion criteria provided | literature only | OMIM | Jul 16, 1999 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at