12-41025296-A-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001843.4(CNTN1):āc.2670A>Gā(p.Gly890=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,382 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. Synonymous variant affecting the same amino acid position (i.e. G890G) has been classified as Benign.
Frequency
Consequence
NM_001843.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CNTN1 | NM_001843.4 | c.2670A>G | p.Gly890= | synonymous_variant | 21/24 | ENST00000551295.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CNTN1 | ENST00000551295.7 | c.2670A>G | p.Gly890= | synonymous_variant | 21/24 | 1 | NM_001843.4 | P3 | |
CNTN1 | ENST00000347616.5 | c.2670A>G | p.Gly890= | synonymous_variant | 20/23 | 1 | P3 | ||
CNTN1 | ENST00000348761.2 | c.2637A>G | p.Gly879= | synonymous_variant | 19/22 | 1 | A1 | ||
CNTN1 | ENST00000550305.1 | n.629A>G | non_coding_transcript_exon_variant | 5/6 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461382Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726948
GnomAD4 genome Cov.: 32
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.