rs1476679
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001386010.1(ZCWPW1):c.1069-25G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000688 in 1,453,100 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_001386010.1 intron
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZCWPW1 | NM_001386010.1 | c.1069-25G>T | intron_variant | ENST00000684423.1 | NP_001372939.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZCWPW1 | ENST00000684423.1 | c.1069-25G>T | intron_variant | NM_001386010.1 | ENSP00000507762 | P4 | ||||
ENST00000695704.1 | n.505+2989C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 247862Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134504
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1453100Hom.: 0 Cov.: 26 AF XY: 0.00000138 AC XY: 1AN XY: 723524
GnomAD4 genome Cov.: 29
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at