chr1-15467429-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_033440.3(CELA2A):c.683G>A(p.Arg228Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000103 in 1,613,988 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_033440.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CELA2A | NM_033440.3 | c.683G>A | p.Arg228Gln | missense_variant | 7/8 | ENST00000359621.5 | |
LOC105376767 | XR_002958256.2 | n.77C>T | non_coding_transcript_exon_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CELA2A | ENST00000359621.5 | c.683G>A | p.Arg228Gln | missense_variant | 7/8 | 1 | NM_033440.3 | P1 | |
CELA2B | ENST00000494280.1 | n.280G>A | non_coding_transcript_exon_variant | 2/6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000526 AC: 80AN: 152208Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.000147 AC: 37AN: 251082Hom.: 0 AF XY: 0.000133 AC XY: 18AN XY: 135778
GnomAD4 exome AF: 0.0000582 AC: 85AN: 1461662Hom.: 1 Cov.: 33 AF XY: 0.0000536 AC XY: 39AN XY: 727152
GnomAD4 genome AF: 0.000532 AC: 81AN: 152326Hom.: 1 Cov.: 31 AF XY: 0.000591 AC XY: 44AN XY: 74480
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 21, 2023 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at