13-78601733-C-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_006237.4(POU4F1):c.942G>A(p.Ser314Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,613,718 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 Likely benign (no stars).
Frequency
Consequence
NM_006237.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POU4F1 | NM_006237.4 | c.942G>A | p.Ser314Ser | synonymous_variant | Exon 2 of 2 | ENST00000377208.7 | NP_006228.3 | |
POU4F1 | XR_007063683.1 | n.1422G>A | non_coding_transcript_exon_variant | Exon 1 of 2 | ||||
OBI1-AS1 | NR_047001.1 | n.385-3568C>T | intron_variant | Intron 3 of 5 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152204Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250176Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135560
GnomAD4 exome AF: 0.0000287 AC: 42AN: 1461514Hom.: 0 Cov.: 32 AF XY: 0.0000303 AC XY: 22AN XY: 727062
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152204Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74360
ClinVar
Submissions by phenotype
POU4F1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at