rs1206142672
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_000092.5(COL4A4):c.4758_4760del(p.Pro1587del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,628 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P1586P) has been classified as Likely benign.
Frequency
Consequence
NM_000092.5 inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL4A4 | NM_000092.5 | c.4758_4760del | p.Pro1587del | inframe_deletion | 47/48 | ENST00000396625.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL4A4 | ENST00000396625.5 | c.4758_4760del | p.Pro1587del | inframe_deletion | 47/48 | 5 | NM_000092.5 | P1 | |
COL4A4 | ENST00000682098.1 | c.360_362del | p.Pro121del | inframe_deletion | 2/3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248208Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134802
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461628Hom.: 0 AF XY: 0.00000138 AC XY: 1AN XY: 727130
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at