chr10-69382664-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_000188.3(HK1):c.1443G>C(p.Lys481Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. K481K) has been classified as Benign.
Frequency
Consequence
NM_000188.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HK1 | NM_001358263.1 | c.1455G>C | p.Lys485Asn | missense_variant | Exon 13 of 21 | ENST00000643399.2 | NP_001345192.1 | |
HK1 | NM_000188.3 | c.1443G>C | p.Lys481Asn | missense_variant | Exon 10 of 18 | ENST00000359426.7 | NP_000179.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HK1 | ENST00000643399.2 | c.1455G>C | p.Lys485Asn | missense_variant | Exon 13 of 21 | NM_001358263.1 | ENSP00000494664.1 | |||
HK1 | ENST00000359426.7 | c.1443G>C | p.Lys481Asn | missense_variant | Exon 10 of 18 | 1 | NM_000188.3 | ENSP00000352398.6 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 67
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at