rs5574
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000905.4(NPY):c.204C>A(p.Ser68=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S68S) has been classified as Benign.
Frequency
Consequence
NM_000905.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NPY | NM_000905.4 | c.204C>A | p.Ser68= | synonymous_variant | 3/4 | ENST00000242152.7 | |
LOC107986777 | XR_001745132.2 | n.209+29843G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NPY | ENST00000242152.7 | c.204C>A | p.Ser68= | synonymous_variant | 3/4 | 1 | NM_000905.4 | P1 | |
NPY | ENST00000405982.1 | c.204C>A | p.Ser68= | synonymous_variant | 2/3 | 1 | P1 | ||
NPY | ENST00000407573.5 | c.204C>A | p.Ser68= | synonymous_variant | 4/5 | 3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at