chr19-35065253-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001384133.1(HPN):āc.815A>Gā(p.Tyr272Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,459,436 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001384133.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HPN | NM_001384133.1 | c.815A>G | p.Tyr272Cys | missense_variant | 10/13 | ENST00000672452.2 | |
HPN-AS1 | NR_024562.1 | n.405-5475T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HPN | ENST00000672452.2 | c.815A>G | p.Tyr272Cys | missense_variant | 10/13 | NM_001384133.1 | P1 | ||
HPN-AS1 | ENST00000653822.1 | n.213-12134T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1459436Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 726016
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 26, 2022 | The c.815A>G (p.Y272C) alteration is located in exon 10 (coding exon 9) of the HPN gene. This alteration results from a A to G substitution at nucleotide position 815, causing the tyrosine (Y) at amino acid position 272 to be replaced by a cysteine (C). 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.