X-108680941-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_033380.3(COL4A5):āc.4072C>Gā(p.Leu1358Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000915 in 1,093,356 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. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L1358I) has been classified as Likely benign.
Frequency
Consequence
NM_033380.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL4A5 | ENST00000328300.11 | c.4072C>G | p.Leu1358Val | missense_variant | Exon 46 of 53 | 1 | NM_033380.3 | ENSP00000331902.7 | ||
COL4A5 | ENST00000361603.7 | c.4054C>G | p.Leu1352Val | missense_variant | Exon 44 of 51 | 2 | ENSP00000354505.2 | |||
COL4A5 | ENST00000489230.1 | n.475C>G | non_coding_transcript_exon_variant | Exon 5 of 8 | 5 | |||||
COL4A5 | ENST00000510690.2 | n.566C>G | non_coding_transcript_exon_variant | Exon 4 of 11 | 4 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome AF: 9.15e-7 AC: 1AN: 1093356Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 358928
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.