rs3816877
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001640.4(APEH):āc.1622C>Gā(p.Thr541Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,328 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. T541M) has been classified as Likely benign.
Frequency
Consequence
NM_001640.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APEH | NM_001640.4 | c.1622C>G | p.Thr541Arg | missense_variant | 18/22 | ENST00000296456.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APEH | ENST00000296456.10 | c.1622C>G | p.Thr541Arg | missense_variant | 18/22 | 1 | NM_001640.4 | P1 | |
APEH | ENST00000438011.5 | c.1622C>G | p.Thr541Arg | missense_variant | 18/22 | 1 | |||
APEH | ENST00000469362.6 | c.*322C>G | 3_prime_UTR_variant, NMD_transcript_variant | 7/9 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249972Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135224
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461328Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 726924
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at