3-99790966-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_020351.4(COL8A1):c.284C>T(p.Pro95Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000224 in 1,613,460 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL8A1 | NM_020351.4 | c.284C>T | p.Pro95Leu | missense_variant | 3/4 | ENST00000652472.1 | |
COL8A1 | NM_001850.5 | c.284C>T | p.Pro95Leu | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL8A1 | ENST00000652472.1 | c.284C>T | p.Pro95Leu | missense_variant | 3/4 | NM_020351.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000164 AC: 25AN: 152176Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000996 AC: 25AN: 250996Hom.: 0 AF XY: 0.0000958 AC XY: 13AN XY: 135698
GnomAD4 exome AF: 0.000230 AC: 336AN: 1461166Hom.: 0 Cov.: 32 AF XY: 0.000228 AC XY: 166AN XY: 726716
GnomAD4 genome ? AF: 0.000164 AC: 25AN: 152294Hom.: 0 Cov.: 33 AF XY: 0.000201 AC XY: 15AN XY: 74484
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 12, 2023 | The c.284C>T (p.P95L) alteration is located in exon 4 (coding exon 1) of the COL8A1 gene. This alteration results from a C to T substitution at nucleotide position 284, causing the proline (P) at amino acid position 95 to be replaced by a leucine (L). 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