chrX-83509122-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_000307.5(POU3F4):c.798G>C(p.Pro266=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000108 in 1,209,920 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 41 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P266P) has been classified as Likely benign.
Frequency
Consequence
NM_000307.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POU3F4 | NM_000307.5 | c.798G>C | p.Pro266= | synonymous_variant | 1/1 | ENST00000644024.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POU3F4 | ENST00000644024.2 | c.798G>C | p.Pro266= | synonymous_variant | 1/1 | NM_000307.5 | P1 | ||
ENST00000625081.1 | n.93C>G | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.000116 AC: 13AN: 111959Hom.: 0 Cov.: 23 AF XY: 0.0000879 AC XY: 3AN XY: 34141
GnomAD3 exomes AF: 0.000230 AC: 42AN: 182586Hom.: 0 AF XY: 0.000224 AC XY: 15AN XY: 67104
GnomAD4 exome AF: 0.000107 AC: 118AN: 1097961Hom.: 0 Cov.: 32 AF XY: 0.000105 AC XY: 38AN XY: 363323
GnomAD4 genome ? AF: 0.000116 AC: 13AN: 111959Hom.: 0 Cov.: 23 AF XY: 0.0000879 AC XY: 3AN XY: 34141
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at