chr5-10973721-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001332.4(CTNND2):c.3418-8C>T variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00146 in 1,582,182 control chromosomes in the GnomAD database, including 34 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001332.4 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CTNND2 | NM_001332.4 | c.3418-8C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000304623.13 | |||
LOC105374654 | XR_925791.3 | n.535+3614G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CTNND2 | ENST00000304623.13 | c.3418-8C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001332.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00786 AC: 1196AN: 152098Hom.: 15 Cov.: 33
GnomAD3 exomes AF: 0.00229 AC: 500AN: 218652Hom.: 8 AF XY: 0.00174 AC XY: 203AN XY: 116554
GnomAD4 exome AF: 0.000783 AC: 1120AN: 1429966Hom.: 19 Cov.: 31 AF XY: 0.000692 AC XY: 490AN XY: 707714
GnomAD4 genome AF: 0.00786 AC: 1196AN: 152216Hom.: 15 Cov.: 33 AF XY: 0.00763 AC XY: 568AN XY: 74420
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Dec 22, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at