19-43577136-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001193621.3(PINLYP):c.-56A>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000195 in 1,535,598 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_001193621.3 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PINLYP | NM_001193621.3 | c.-56A>C | 5_prime_UTR_variant | 2/6 | ENST00000599207.6 | ||
PINLYP | XM_047438830.1 | c.17A>C | p.His6Pro | missense_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PINLYP | ENST00000599207.6 | c.-56A>C | 5_prime_UTR_variant | 2/6 | 5 | NM_001193621.3 | P2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151948Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.00000145 AC: 2AN: 1383650Hom.: 0 Cov.: 50 AF XY: 0.00 AC XY: 0AN XY: 682756
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151948Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 74216
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at