6-26271171-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003534.3(H3C8):c.214G>A(p.Val72Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000122 in 1,614,128 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 (★).
Frequency
Consequence
NM_003534.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
H3C8 | ENST00000614378.2 | c.214G>A | p.Val72Met | missense_variant | Exon 1 of 1 | 6 | NM_003534.3 | ENSP00000484638.1 | ||
ENSG00000291336 | ENST00000707189.1 | n.999+147000C>T | intron_variant | Intron 1 of 1 | ||||||
ENSG00000291338 | ENST00000707191.1 | n.1000+113050C>T | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152238Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000915 AC: 23AN: 251470Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135918
GnomAD4 exome AF: 0.000127 AC: 186AN: 1461890Hom.: 0 Cov.: 31 AF XY: 0.000114 AC XY: 83AN XY: 727244
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152238Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74388
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.214G>A (p.V72M) alteration is located in exon 1 (coding exon 1) of the HIST1H3G gene. This alteration results from a G to A substitution at nucleotide position 214, causing the valine (V) at amino acid position 72 to be replaced by a methionine (M). 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