16-29873426-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001243332.2(SEZ6L2):āc.2302T>Cā(p.Tyr768His) variant causes a missense change. The variant allele was found at a frequency of 0.0000514 in 1,614,080 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001243332.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SEZ6L2 | NM_001243332.2 | c.2302T>C | p.Tyr768His | missense_variant | Exon 14 of 18 | ENST00000617533.5 | NP_001230261.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SEZ6L2 | ENST00000617533.5 | c.2302T>C | p.Tyr768His | missense_variant | Exon 14 of 18 | 1 | NM_001243332.2 | ENSP00000481917.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251080Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135700
GnomAD4 exome AF: 0.0000561 AC: 82AN: 1461874Hom.: 0 Cov.: 32 AF XY: 0.0000495 AC XY: 36AN XY: 727242
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2302T>C (p.Y768H) alteration is located in exon 14 (coding exon 14) of the SEZ6L2 gene. This alteration results from a T to C substitution at nucleotide position 2302, causing the tyrosine (Y) at amino acid position 768 to be replaced by a histidine (H). 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