chr9-35675781-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001216.3(CA9):c.454G>A(p.Val152Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000106 in 1,602,656 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001216.3 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 | UniProt |
---|---|---|---|---|---|---|---|
CA9 | NM_001216.3 | c.454G>A | p.Val152Met | missense_variant | 3/11 | ENST00000378357.9 | |
CA9 | XM_047423849.1 | c.454G>A | p.Val152Met | missense_variant | 3/6 | ||
CA9 | XM_047423850.1 | c.454G>A | p.Val152Met | missense_variant | 3/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CA9 | ENST00000378357.9 | c.454G>A | p.Val152Met | missense_variant | 3/11 | 1 | NM_001216.3 | P1 | |
ARHGEF39 | ENST00000490638.5 | c.-2066C>T | 5_prime_UTR_variant, NMD_transcript_variant | 1/12 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152200Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000965 AC: 14AN: 1450456Hom.: 0 Cov.: 33 AF XY: 0.00000970 AC XY: 7AN XY: 721842
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152200Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at