rs3766160
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_015849.3(CELA2B):c.340G>A(p.Asp114Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.26 in 1,613,674 control chromosomes in the GnomAD database, including 57,479 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_015849.3 missense
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 |
---|---|---|---|---|---|---|---|
CELA2B | NM_015849.3 | c.340G>A | p.Asp114Asn | missense_variant | 4/8 | ENST00000375910.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CELA2B | ENST00000375910.8 | c.340G>A | p.Asp114Asn | missense_variant | 4/8 | 1 | NM_015849.3 | P1 | |
CELA2B | ENST00000494280.1 | n.689G>A | non_coding_transcript_exon_variant | 5/6 | 5 | ||||
CELA2B | ENST00000422901.1 | downstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.263 AC: 39938AN: 151940Hom.: 5612 Cov.: 32
GnomAD3 exomes AF: 0.274 AC: 68796AN: 251436Hom.: 10478 AF XY: 0.265 AC XY: 36004AN XY: 135890
GnomAD4 exome AF: 0.259 AC: 378902AN: 1461616Hom.: 51863 Cov.: 33 AF XY: 0.256 AC XY: 186371AN XY: 727120
GnomAD4 genome ? AF: 0.263 AC: 39955AN: 152058Hom.: 5616 Cov.: 32 AF XY: 0.264 AC XY: 19597AN XY: 74292
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at