3-99790969-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_020351.4(COL8A1):c.287C>T(p.Ala96Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000167 in 1,613,336 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_020351.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL8A1 | NM_020351.4 | c.287C>T | p.Ala96Val | missense_variant | 3/4 | ENST00000652472.1 | |
COL8A1 | NM_001850.5 | c.287C>T | p.Ala96Val | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL8A1 | ENST00000652472.1 | c.287C>T | p.Ala96Val | missense_variant | 3/4 | NM_020351.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000125 AC: 19AN: 152148Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000395 AC: 99AN: 250932Hom.: 0 AF XY: 0.000420 AC XY: 57AN XY: 135668
GnomAD4 exome AF: 0.000172 AC: 251AN: 1461070Hom.: 0 Cov.: 32 AF XY: 0.000183 AC XY: 133AN XY: 726648
GnomAD4 genome ? AF: 0.000125 AC: 19AN: 152266Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74482
ClinVar
Submissions by phenotype
COL8A1-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jun 21, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at