7-117721135-T-TAA
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_033427.3(CTTNBP2):c.4448-7_4448-6dupTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000799 in 1,550,996 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_033427.3 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CTTNBP2 | ENST00000160373.8 | c.4448-6_4448-5insTT | splice_region_variant, intron_variant | Intron 19 of 22 | 1 | NM_033427.3 | ENSP00000160373.3 | |||
CTTNBP2 | ENST00000446636.5 | c.2909-6_2909-5insTT | splice_region_variant, intron_variant | Intron 17 of 20 | 5 | ENSP00000389576.1 | ||||
CTTNBP2 | ENST00000441556.5 | n.*2362-6_*2362-5insTT | splice_region_variant, intron_variant | Intron 19 of 22 | 5 | ENSP00000397678.1 | ||||
CTTNBP2 | ENST00000445366.1 | n.*165-6_*165-5insTT | splice_region_variant, intron_variant | Intron 2 of 5 | 5 | ENSP00000389491.1 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000176 AC: 44AN: 250258Hom.: 0 AF XY: 0.000192 AC XY: 26AN XY: 135268
GnomAD4 exome AF: 0.0000822 AC: 115AN: 1398790Hom.: 0 Cov.: 24 AF XY: 0.0000843 AC XY: 59AN XY: 699720
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152206Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74352
ClinVar
Submissions by phenotype
CTTNBP2-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at