8-94492752-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_015496.5(VIRMA):c.4708G>A(p.Glu1570Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,613,840 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015496.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VIRMA | NM_015496.5 | c.4708G>A | p.Glu1570Lys | missense_variant | Exon 21 of 24 | ENST00000297591.10 | NP_056311.2 | |
VIRMA | XM_047421677.1 | c.3703G>A | p.Glu1235Lys | missense_variant | Exon 22 of 25 | XP_047277633.1 | ||
VIRMA | XM_047421678.1 | c.3703G>A | p.Glu1235Lys | missense_variant | Exon 17 of 20 | XP_047277634.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251272Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135808
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461752Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727176
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74298
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4708G>A (p.E1570K) alteration is located in exon 21 (coding exon 21) of the KIAA1429 gene. This alteration results from a G to A substitution at nucleotide position 4708, causing the glutamic acid (E) at amino acid position 1570 to be replaced by a lysine (K). 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