20-37842378-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030877.5(CTNNBL1):c.1351G>A(p.Ala451Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000347 in 1,613,708 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A451A) has been classified as Likely benign.
Frequency
Consequence
NM_030877.5 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 |
---|---|---|---|---|---|---|---|
CTNNBL1 | NM_030877.5 | c.1351G>A | p.Ala451Thr | missense_variant | 13/16 | ENST00000361383.11 | |
CTNNBL1 | NM_001281495.2 | c.1270G>A | p.Ala424Thr | missense_variant | 14/17 | ||
CTNNBL1 | XM_024451947.2 | c.1270G>A | p.Ala424Thr | missense_variant | 14/17 | ||
CTNNBL1 | XM_011528917.3 | c.1021G>A | p.Ala341Thr | missense_variant | 11/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CTNNBL1 | ENST00000361383.11 | c.1351G>A | p.Ala451Thr | missense_variant | 13/16 | 1 | NM_030877.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251394Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135866
GnomAD4 exome AF: 0.0000369 AC: 54AN: 1461532Hom.: 0 Cov.: 29 AF XY: 0.0000454 AC XY: 33AN XY: 727078
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152176Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2022 | The c.1351G>A (p.A451T) alteration is located in exon 13 (coding exon 13) of the CTNNBL1 gene. This alteration results from a G to A substitution at nucleotide position 1351, causing the alanine (A) at amino acid position 451 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at