rs11570194
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001085458.2(CTNND1):āc.650A>Cā(p.Tyr217Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,706 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y217C) has been classified as Likely benign.
Frequency
Consequence
NM_001085458.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CTNND1 | NM_001085458.2 | c.650A>C | p.Tyr217Ser | missense_variant | 6/21 | ENST00000399050.10 | |
TMX2-CTNND1 | NR_037646.1 | n.1209A>C | non_coding_transcript_exon_variant | 7/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CTNND1 | ENST00000399050.10 | c.650A>C | p.Tyr217Ser | missense_variant | 6/21 | 1 | NM_001085458.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461706Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727136
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.