rs25651
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001150.3(ANPEP):c.2255G>A(p.Ser752Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.319 in 1,612,620 control chromosomes in the GnomAD database, including 84,996 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_001150.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANPEP | NM_001150.3 | c.2255G>A | p.Ser752Asn | missense_variant | Exon 17 of 21 | ENST00000300060.7 | NP_001141.2 | |
ANPEP | NM_001381923.1 | c.2255G>A | p.Ser752Asn | missense_variant | Exon 17 of 21 | NP_001368852.1 | ||
ANPEP | NM_001381924.1 | c.2255G>A | p.Ser752Asn | missense_variant | Exon 16 of 20 | NP_001368853.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.352 AC: 53420AN: 151886Hom.: 10146 Cov.: 32
GnomAD3 exomes AF: 0.301 AC: 75567AN: 251026Hom.: 12120 AF XY: 0.302 AC XY: 41018AN XY: 135706
GnomAD4 exome AF: 0.316 AC: 461669AN: 1460616Hom.: 74840 Cov.: 36 AF XY: 0.316 AC XY: 229727AN XY: 726728
GnomAD4 genome AF: 0.352 AC: 53481AN: 152004Hom.: 10156 Cov.: 32 AF XY: 0.342 AC XY: 25416AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at