17-51930998-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_020178.5(CA10):c.271G>A(p.Gly91Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000411 in 1,461,042 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020178.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CA10 | NM_020178.5 | c.271G>A | p.Gly91Ser | missense_variant | Exon 3 of 9 | ENST00000451037.7 | NP_064563.1 | |
CA10 | NM_001082533.1 | c.271G>A | p.Gly91Ser | missense_variant | Exon 4 of 10 | NP_001076002.1 | ||
CA10 | NM_001082534.2 | c.271G>A | p.Gly91Ser | missense_variant | Exon 4 of 10 | NP_001076003.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 151928Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461042Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726836
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 151928Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74176
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.271G>A (p.G91S) alteration is located in exon 4 (coding exon 3) of the CA10 gene. This alteration results from a G to A substitution at nucleotide position 271, causing the glycine (G) at amino acid position 91 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