8-85442184-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_005181.4(CA3):c.344C>A(p.Ala115Glu) variant causes a missense change. The variant allele was found at a frequency of 0.000000718 in 1,392,290 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005181.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CA3 | NM_005181.4 | c.344C>A | p.Ala115Glu | missense_variant | Exon 3 of 7 | ENST00000285381.3 | NP_005172.1 | |
CA3-AS1 | NR_121630.1 | n.454G>T | non_coding_transcript_exon_variant | Exon 3 of 3 | ||||
CA3-AS1 | NR_121631.1 | n.226G>T | non_coding_transcript_exon_variant | Exon 3 of 3 | ||||
CA3-AS1 | NR_121632.1 | n.243G>T | non_coding_transcript_exon_variant | Exon 3 of 3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.18e-7 AC: 1AN: 1392290Hom.: 0 Cov.: 23 AF XY: 0.00000144 AC XY: 1AN XY: 696746
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.344C>A (p.A115E) alteration is located in exon 3 (coding exon 3) of the CA3 gene. This alteration results from a C to A substitution at nucleotide position 344, causing the alanine (A) at amino acid position 115 to be replaced by a glutamic acid (E). 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
Publications
No publications associated with this variant yet.