rs104886360
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_033380.3(COL4A5):c.2678-10T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000938 in 1,065,904 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_033380.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL4A5 | ENST00000328300.11 | c.2678-10T>C | intron_variant | Intron 31 of 52 | 1 | NM_033380.3 | ENSP00000331902.7 | |||
COL4A5 | ENST00000483338.1 | c.1502-10T>C | intron_variant | Intron 15 of 19 | 1 | ENSP00000495685.1 | ||||
COL4A5 | ENST00000361603.7 | c.2678-10T>C | intron_variant | Intron 31 of 50 | 2 | ENSP00000354505.2 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome AF: 9.38e-7 AC: 1AN: 1065904Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 336196
GnomAD4 genome Cov.: 22
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.