NM_003547.3:c.151A>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003547.3(H4C7):c.151A>G(p.Ile51Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000818 in 1,614,152 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003547.3 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 |
---|---|---|---|---|---|---|---|---|---|---|
H4C7 | ENST00000611444.2 | c.151A>G | p.Ile51Val | missense_variant | Exon 1 of 1 | 6 | NM_003547.3 | ENSP00000477870.2 | ||
ENSG00000291336 | ENST00000707189.1 | n.999+122656T>C | intron_variant | Intron 1 of 1 | ||||||
ENSG00000291338 | ENST00000707191.1 | n.1000+88706T>C | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000115 AC: 29AN: 251394Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135894
GnomAD4 exome AF: 0.0000848 AC: 124AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.0000921 AC XY: 67AN XY: 727242
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.151A>G (p.I51V) alteration is located in exon 1 (coding exon 1) of the HIST1H4G gene. This alteration results from a A to G substitution at nucleotide position 151, causing the isoleucine (I) at amino acid position 51 to be replaced by a valine (V). 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