1-42807419-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_199342.4(SVBP):c.196G>A(p.Glu66Lys) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_199342.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SVBP | ENST00000372521.9 | c.196G>A | p.Glu66Lys | missense_variant | Exon 3 of 3 | 1 | NM_199342.4 | ENSP00000361599.4 | ||
SVBP | ENST00000372522.5 | c.196G>A | p.Glu66Lys | missense_variant | Exon 3 of 3 | 3 | ENSP00000361600.1 | |||
TMEM269 | ENST00000421630.6 | n.*196-1609C>T | intron_variant | Intron 8 of 10 | 5 | ENSP00000490287.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 29
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.196G>A (p.E66K) alteration is located in exon 3 (coding exon 2) of the SVBP gene. This alteration results from a G to A substitution at nucleotide position 196, causing the glutamic acid (E) at amino acid position 66 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
Publications
No publications associated with this variant yet.