chr11-57753377-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_037646.1(TMX2-CTNND1):n.346+15709A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.441 in 985,002 control chromosomes in the GnomAD database, including 96,729 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NR_037646.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMX2-CTNND1 | NR_037646.1 | n.346+15709A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CTNND1 | ENST00000524630.5 | c.-379A>G | 5_prime_UTR_variant | 1/19 | 2 | P4 | |||
CTNND1 | ENST00000529919.5 | c.-244A>G | 5_prime_UTR_variant | 1/20 | 5 | A1 | |||
CTNND1 | ENST00000533189.1 | c.-44A>G | 5_prime_UTR_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.408 AC: 61991AN: 152030Hom.: 13134 Cov.: 33
GnomAD4 exome AF: 0.447 AC: 372279AN: 832852Hom.: 83594 Cov.: 31 AF XY: 0.448 AC XY: 172239AN XY: 384628
GnomAD4 genome AF: 0.408 AC: 62022AN: 152150Hom.: 13135 Cov.: 33 AF XY: 0.396 AC XY: 29453AN XY: 74378
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at