chr6-27831413-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP3
The NM_003541.3(H4C12):c.115G>C(p.Ala39Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000000696 in 1,435,838 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_003541.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000491 AC: 1AN: 203652Hom.: 0 AF XY: 0.00000897 AC XY: 1AN XY: 111436
GnomAD4 exome AF: 6.96e-7 AC: 1AN: 1435838Hom.: 0 Cov.: 34 AF XY: 0.00000141 AC XY: 1AN XY: 711096
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.115G>C (p.A39P) alteration is located in exon 1 (coding exon 1) of the HIST1H4K gene. This alteration results from a G to C substitution at nucleotide position 115, causing the alanine (A) at amino acid position 39 to be replaced by a proline (P). 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