chr3-99790999-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020351.4(COL8A1):c.317A>G(p.Lys106Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,611,314 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020351.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL8A1 | NM_020351.4 | c.317A>G | p.Lys106Arg | missense_variant | 3/4 | ENST00000652472.1 | |
COL8A1 | NM_001850.5 | c.317A>G | p.Lys106Arg | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL8A1 | ENST00000652472.1 | c.317A>G | p.Lys106Arg | missense_variant | 3/4 | NM_020351.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152278Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000440 AC: 11AN: 250280Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135298
GnomAD4 exome AF: 0.0000158 AC: 23AN: 1458918Hom.: 0 Cov.: 31 AF XY: 0.00000965 AC XY: 7AN XY: 725154
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152396Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74536
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 17, 2021 | The c.317A>G (p.K106R) alteration is located in exon 4 (coding exon 1) of the COL8A1 gene. This alteration results from a A to G substitution at nucleotide position 317, causing the lysine (K) at amino acid position 106 to be replaced by an arginine (R). 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