2-43675638-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001101330.3(C1GALT1C1L):c.685G>A(p.Val229Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,508 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 9/12 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V229L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001101330.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
C1GALT1C1L | ENST00000475092.4 | c.685G>A | p.Val229Ile | missense_variant | Exon 1 of 1 | 6 | NM_001101330.3 | ENSP00000489061.1 | ||
PLEKHH2 | ENST00000282406.9 | c.124-3225C>T | intron_variant | Intron 2 of 29 | 1 | NM_172069.4 | ENSP00000282406.4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249072Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135118
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461508Hom.: 0 Cov.: 41 AF XY: 0.00000138 AC XY: 1AN XY: 727026
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at