chr15-89785446-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001150.3(ANPEP):c.2807C>G(p.Ala936Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,613,988 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A936A) has been classified as Likely benign.
Frequency
Consequence
NM_001150.3 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 |
---|---|---|---|---|---|---|---|
ANPEP | NM_001150.3 | c.2807C>G | p.Ala936Gly | missense_variant | 21/21 | ENST00000300060.7 | |
ANPEP | NM_001381923.1 | c.2807C>G | p.Ala936Gly | missense_variant | 21/21 | ||
ANPEP | NM_001381924.1 | c.2807C>G | p.Ala936Gly | missense_variant | 20/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANPEP | ENST00000300060.7 | c.2807C>G | p.Ala936Gly | missense_variant | 21/21 | 1 | NM_001150.3 | P1 | |
ANPEP | ENST00000559874.2 | c.2807C>G | p.Ala936Gly | missense_variant | 21/21 | 3 | P1 | ||
ANPEP | ENST00000560137.2 | c.2807C>G | p.Ala936Gly | missense_variant | 21/21 | 3 | P1 | ||
ANPEP | ENST00000679248.1 | c.2807C>G | p.Ala936Gly | missense_variant | 22/22 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152176Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249158Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134872
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461812Hom.: 0 Cov.: 56 AF XY: 0.00000825 AC XY: 6AN XY: 727208
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152176Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 09, 2024 | The c.2807C>G (p.A936G) alteration is located in exon 21 (coding exon 20) of the ANPEP gene. This alteration results from a C to G substitution at nucleotide position 2807, causing the alanine (A) at amino acid position 936 to be replaced by a glycine (G). 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