7-39451651-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001370959.1(POU6F2):c.1439C>T(p.Ser480Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 152,286 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001370959.1 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 |
---|---|---|---|---|---|---|---|---|
POU6F2 | NM_001370959.1 | c.1439C>T | p.Ser480Phe | missense_variant | Exon 8 of 10 | ENST00000518318.7 | NP_001357888.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POU6F2 | ENST00000518318.7 | c.1439C>T | p.Ser480Phe | missense_variant | Exon 8 of 10 | 1 | NM_001370959.1 | ENSP00000430514.3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000409 AC: 1AN: 244792Hom.: 0 AF XY: 0.00000758 AC XY: 1AN XY: 131902
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152286Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74466
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1352C>T (p.S451F) alteration is located in exon 9 (coding exon 8) of the POU6F2 gene. This alteration results from a C to T substitution at nucleotide position 1352, causing the serine (S) at amino acid position 451 to be replaced by a phenylalanine (F). 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