chr4-163326157-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000909.6(NPY1R):c.398T>A(p.Leu133His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000909.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NPY1R | NM_000909.6 | c.398T>A | p.Leu133His | missense_variant | Exon 2 of 3 | ENST00000296533.3 | NP_000900.1 | |
NPY1R | XM_005263031.5 | c.398T>A | p.Leu133His | missense_variant | Exon 2 of 3 | XP_005263088.1 | ||
NPY1R | XM_011532010.4 | c.398T>A | p.Leu133His | missense_variant | Exon 2 of 3 | XP_011530312.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.398T>A (p.L133H) alteration is located in exon 2 (coding exon 1) of the NPY1R gene. This alteration results from a T to A substitution at nucleotide position 398, causing the leucine (L) at amino acid position 133 to be replaced by a histidine (H). 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
Publications
No publications associated with this variant yet.