3-87259946-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_000306.4(POU1F1):c.824G>A(p.Ser275Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000752 in 1,461,846 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000306.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POU1F1 | ENST00000350375.7 | c.824G>A | p.Ser275Asn | missense_variant | Exon 6 of 6 | 1 | NM_000306.4 | ENSP00000263781.2 | ||
POU1F1 | ENST00000344265.8 | c.902G>A | p.Ser301Asn | missense_variant | Exon 6 of 6 | 5 | ENSP00000342931.3 | |||
POU1F1 | ENST00000561167.5 | c.599G>A | p.Ser200Asn | missense_variant | Exon 5 of 5 | 5 | ENSP00000454072.1 | |||
POU1F1 | ENST00000560656 | c.*88G>A | 3_prime_UTR_variant | Exon 4 of 4 | 5 | ENSP00000452610.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461846Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727220
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.