rs963337
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_033641.4(COL4A6):c.144+25739T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.264 in 110,784 control chromosomes in the GnomAD database, including 3,217 homozygotes. There are 8,641 hemizygotes 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_033641.4 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL4A6 | NM_033641.4 | c.144+25739T>C | intron_variant | ENST00000334504.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL4A6 | ENST00000334504.12 | c.144+25739T>C | intron_variant | 5 | NM_033641.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.264 AC: 29243AN: 110726Hom.: 3212 Cov.: 23 AF XY: 0.261 AC XY: 8603AN XY: 32984
GnomAD4 genome AF: 0.264 AC: 29283AN: 110784Hom.: 3217 Cov.: 23 AF XY: 0.261 AC XY: 8641AN XY: 33052
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at