chr15-89790984-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001150.3(ANPEP):c.2638G>C(p.Val880Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000359 in 1,614,084 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001150.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANPEP | NM_001150.3 | c.2638G>C | p.Val880Leu | missense_variant | 19/21 | ENST00000300060.7 | |
ANPEP | NM_001381923.1 | c.2638G>C | p.Val880Leu | missense_variant | 19/21 | ||
ANPEP | NM_001381924.1 | c.2638G>C | p.Val880Leu | missense_variant | 18/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANPEP | ENST00000300060.7 | c.2638G>C | p.Val880Leu | missense_variant | 19/21 | 1 | NM_001150.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251372Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135848
GnomAD4 exome AF: 0.0000390 AC: 57AN: 1461862Hom.: 0 Cov.: 31 AF XY: 0.0000468 AC XY: 34AN XY: 727238
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 16, 2024 | The c.2638G>C (p.V880L) alteration is located in exon 19 (coding exon 18) of the ANPEP gene. This alteration results from a G to C substitution at nucleotide position 2638, causing the valine (V) at amino acid position 880 to be replaced by a leucine (L). 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