chr14-96486941-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP3_ModeratePP5
The NM_152327.5(AK7):c.2018T>G(p.Leu673Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,750 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L673P) has been classified as Uncertain significance.
Frequency
Consequence
NM_152327.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AK7 | NM_152327.5 | c.2018T>G | p.Leu673Arg | missense_variant | 17/18 | ENST00000267584.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AK7 | ENST00000267584.9 | c.2018T>G | p.Leu673Arg | missense_variant | 17/18 | 1 | NM_152327.5 | P1 | |
AK7 | ENST00000554706.1 | c.284T>G | p.Leu95Arg | missense_variant | 2/3 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461750Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727192
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
Spermatogenic failure 27 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 29, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at