NM_002115.3:c.2734G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_002115.3(HK3):c.2734G>A(p.Ala912Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000205 in 1,612,224 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HK3 | NM_002115.3 | c.2734G>A | p.Ala912Thr | missense_variant | Exon 19 of 19 | ENST00000292432.10 | NP_002106.2 | |
UNC5A | NM_133369.3 | c.*1225C>T | downstream_gene_variant | ENST00000329542.9 | NP_588610.2 | |||
UNC5A | XM_006714928.2 | c.*1225C>T | downstream_gene_variant | XP_006714991.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152196Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 249020Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135062
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1460028Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 12AN XY: 726352
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152196Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2734G>A (p.A912T) alteration is located in exon 19 (coding exon 18) of the HK3 gene. This alteration results from a G to A substitution at nucleotide position 2734, causing the alanine (A) at amino acid position 912 to be replaced by a threonine (T). 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