NM_005181.4:c.185A>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005181.4(CA3):āc.185A>Gā(p.Asn62Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000266 in 1,613,936 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005181.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CA3 | ENST00000285381.3 | c.185A>G | p.Asn62Ser | missense_variant | Exon 2 of 7 | 1 | NM_005181.4 | ENSP00000285381.2 | ||
CA3 | ENST00000520921 | c.-47A>G | 5_prime_UTR_variant | Exon 3 of 4 | 4 | ENSP00000429760.1 | ||||
CA3 | ENST00000522207.1 | n.237A>G | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152180Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251306Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135842
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1461638Hom.: 0 Cov.: 32 AF XY: 0.0000358 AC XY: 26AN XY: 727136
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152298Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.185A>G (p.N62S) alteration is located in exon 2 (coding exon 2) of the CA3 gene. This alteration results from a A to G substitution at nucleotide position 185, causing the asparagine (N) at amino acid position 62 to be replaced by a serine (S). 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