X-85255243-ATTGT-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The NM_001330574.2(ZNF711):c.80-11_80-8delTTGT variant causes a splice region, intron change. The variant was absent in control chromosomes in GnomAD project. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001330574.2 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF711 | ENST00000674551.1 | c.80-15_80-12delTTGT | intron_variant | Intron 4 of 10 | NM_001330574.2 | ENSP00000502839.1 | ||||
ZNF711 | ENST00000360700.4 | c.80-15_80-12delTTGT | intron_variant | Intron 3 of 9 | 1 | ENSP00000353922.4 | ||||
ZNF711 | ENST00000276123.7 | c.80-15_80-12delTTGT | intron_variant | Intron 4 of 9 | 1 | ENSP00000276123.3 | ||||
ZNF711 | ENST00000373165.7 | c.80-15_80-12delTTGT | intron_variant | Intron 3 of 8 | 1 | ENSP00000362260.3 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.