chr5-176881771-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002115.3(HK3):c.2314G>A(p.Val772Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000799 in 1,614,178 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002115.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HK3 | NM_002115.3 | c.2314G>A | p.Val772Ile | missense_variant | Exon 17 of 19 | ENST00000292432.10 | NP_002106.2 | |
HK3 | XM_047417134.1 | c.2238-21G>A | intron_variant | Intron 16 of 17 | XP_047273090.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HK3 | ENST00000292432.10 | c.2314G>A | p.Val772Ile | missense_variant | Exon 17 of 19 | 1 | NM_002115.3 | ENSP00000292432.5 | ||
HK3 | ENST00000506834.5 | n.1326G>A | non_coding_transcript_exon_variant | Exon 8 of 10 | 1 | |||||
HK3 | ENST00000514666.1 | n.102G>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 | |||||
HK3 | ENST00000514058.1 | c.*185G>A | downstream_gene_variant | 5 | ENSP00000424632.1 |
Frequencies
GnomAD3 genomes AF: 0.000269 AC: 41AN: 152216Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000123 AC: 31AN: 251414Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135898
GnomAD4 exome AF: 0.0000602 AC: 88AN: 1461844Hom.: 1 Cov.: 32 AF XY: 0.0000729 AC XY: 53AN XY: 727228
GnomAD4 genome AF: 0.000269 AC: 41AN: 152334Hom.: 0 Cov.: 33 AF XY: 0.000362 AC XY: 27AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2314G>A (p.V772I) alteration is located in exon 17 (coding exon 16) of the HK3 gene. This alteration results from a G to A substitution at nucleotide position 2314, causing the valine (V) at amino acid position 772 to be replaced by an isoleucine (I). 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