rs703
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000067.3(CA2):c.562T>A(p.Leu188Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict 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. L188L) has been classified as Benign.
Frequency
Consequence
NM_000067.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CA2 | NM_000067.3 | c.562T>A | p.Leu188Met | missense_variant | 6/7 | ENST00000285379.10 | NP_000058.1 | |
CA2 | NM_001293675.2 | c.259T>A | p.Leu87Met | missense_variant | 5/6 | NP_001280604.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CA2 | ENST00000285379.10 | c.562T>A | p.Leu188Met | missense_variant | 6/7 | 1 | NM_000067.3 | ENSP00000285379 | P1 | |
CA2 | ENST00000520127.5 | c.*149T>A | 3_prime_UTR_variant, NMD_transcript_variant | 5/6 | 3 | ENSP00000428443 | ||||
CA2 | ENST00000522742.1 | downstream_gene_variant | 3 | ENSP00000428947 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 47
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at