15-28256286-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP2PP3_Moderate
The NM_004667.6(HERC2):c.2549C>A(p.Pro850Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,146 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004667.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HERC2 | NM_004667.6 | c.2549C>A | p.Pro850Gln | missense_variant | 18/93 | ENST00000261609.13 | NP_004658.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HERC2 | ENST00000261609.13 | c.2549C>A | p.Pro850Gln | missense_variant | 18/93 | 1 | NM_004667.6 | ENSP00000261609.8 | ||
HERC2 | ENST00000564734.5 | n.*2419C>A | non_coding_transcript_exon_variant | 19/21 | 1 | ENSP00000456237.1 | ||||
HERC2 | ENST00000564734.5 | n.*2419C>A | 3_prime_UTR_variant | 19/21 | 1 | ENSP00000456237.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152146Hom.: 0 Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1443948Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 718568
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152146Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at