chr6-26158441-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021063.4(H2BC5):c.272C>T(p.Thr91Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,614,288 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T91S) has been classified as Uncertain significance.
Frequency
Consequence
NM_021063.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
H2BC5 | NM_021063.4 | c.272C>T | p.Thr91Ile | missense_variant | Exon 1 of 1 | ENST00000377777.6 | NP_066407.1 | |
H2BC5 | NM_138720.2 | c.272C>T | p.Thr91Ile | missense_variant | Exon 1 of 2 | NP_619790.1 | ||
H2BC5 | XM_005249039.5 | c.272C>T | p.Thr91Ile | missense_variant | Exon 1 of 2 | XP_005249096.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
H2BC5 | ENST00000377777.6 | c.272C>T | p.Thr91Ile | missense_variant | Exon 1 of 1 | 6 | NM_021063.4 | ENSP00000367008.4 | ||
H2BC5 | ENST00000289316.2 | c.272C>T | p.Thr91Ile | missense_variant | Exon 1 of 2 | 1 | ENSP00000289316.2 | |||
ENSG00000291336 | ENST00000707189.1 | n.999+34270C>T | intron_variant | Intron 1 of 1 | ||||||
ENSG00000291338 | ENST00000707191.1 | n.1000+320C>T | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152278Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251466Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135914
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461892Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727248
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152396Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74524
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.272C>T (p.T91I) alteration is located in exon 1 (coding exon 1) of the HIST1H2BD gene. This alteration results from a C to T substitution at nucleotide position 272, causing the threonine (T) at amino acid position 91 to be replaced by an isoleucine (I). 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