6-26199137-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021065.3(H2AC7):c.107G>A(p.Arg36His) variant causes a missense change. The variant allele was found at a frequency of 0.000105 in 1,614,070 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021065.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
H2AC7 | ENST00000341023.2 | c.107G>A | p.Arg36His | missense_variant | Exon 1 of 1 | 6 | NM_021065.3 | ENSP00000341094.2 | ||
ENSG00000282988 | ENST00000635200.1 | c.107G>A | p.Arg36His | missense_variant | Exon 1 of 2 | 3 | ENSP00000489311.1 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000997 AC: 25AN: 250698Hom.: 0 AF XY: 0.0000958 AC XY: 13AN XY: 135770
GnomAD4 exome AF: 0.000107 AC: 157AN: 1461838Hom.: 1 Cov.: 32 AF XY: 0.000106 AC XY: 77AN XY: 727226
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.107G>A (p.R36H) alteration is located in exon 1 (coding exon 1) of the HIST1H2AD gene. This alteration results from a G to A substitution at nucleotide position 107, causing the arginine (R) at amino acid position 36 to be replaced by a histidine (H). 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