NM_001394028.1:c.*149C>A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001394028.1(PYY):c.*149C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0938 in 803,240 control chromosomes in the GnomAD database, including 9,451 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001394028.1 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PYY | NM_001394028.1 | c.*149C>A | 3_prime_UTR_variant | Exon 4 of 4 | ENST00000692052.1 | NP_001380957.1 | ||
PYY | NM_004160.6 | c.*149C>A | 3_prime_UTR_variant | Exon 7 of 7 | NP_004151.4 | |||
PYY | NM_001394029.1 | c.*298C>A | 3_prime_UTR_variant | Exon 3 of 3 | NP_001380958.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PYY | ENST00000692052 | c.*149C>A | 3_prime_UTR_variant | Exon 4 of 4 | NM_001394028.1 | ENSP00000509262.1 | ||||
PYY | ENST00000360085 | c.*149C>A | 3_prime_UTR_variant | Exon 7 of 7 | 1 | ENSP00000353198.1 | ||||
PYY | ENST00000592796 | c.*298C>A | 3_prime_UTR_variant | Exon 3 of 3 | 1 | ENSP00000467310.1 |
Frequencies
GnomAD3 genomes AF: 0.100 AC: 15234AN: 152134Hom.: 1681 Cov.: 32
GnomAD4 exome AF: 0.0923 AC: 60116AN: 650988Hom.: 7760 Cov.: 9 AF XY: 0.0944 AC XY: 31595AN XY: 334810
GnomAD4 genome AF: 0.100 AC: 15262AN: 152252Hom.: 1691 Cov.: 32 AF XY: 0.109 AC XY: 8144AN XY: 74416
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is associated with the following publications: (PMID: 19820027) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at