6-27865490-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003511.3(H2AC16):c.136G>T(p.Ala46Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,613,834 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A46V) has been classified as Uncertain significance.
Frequency
Consequence
NM_003511.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
H2AC16 | NM_003511.3 | c.136G>T | p.Ala46Ser | missense_variant | 1/1 | ENST00000613174.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
H2AC16 | ENST00000613174.2 | c.136G>T | p.Ala46Ser | missense_variant | 1/1 | NM_003511.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000519 AC: 13AN: 250448Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135610
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461630Hom.: 0 Cov.: 32 AF XY: 0.0000220 AC XY: 16AN XY: 727146
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at