NM_001136528.2:c.477T>C
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_001136528.2(SERPINE2):c.477T>C(p.Asn159Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.208 in 1,612,994 control chromosomes in the GnomAD database, including 38,675 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001136528.2 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINE2 | NM_001136528.2 | c.477T>C | p.Asn159Asn | synonymous_variant | Exon 3 of 9 | ENST00000409304.6 | NP_001130000.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.263 AC: 39996AN: 152038Hom.: 6391 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.197 AC: 49459AN: 251120 AF XY: 0.196 show subpopulations
GnomAD4 exome AF: 0.203 AC: 295851AN: 1460838Hom.: 32270 Cov.: 32 AF XY: 0.202 AC XY: 146815AN XY: 726750 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.263 AC: 40043AN: 152156Hom.: 6405 Cov.: 33 AF XY: 0.258 AC XY: 19187AN XY: 74394 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at