chr7-39451632-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001370959.1(POU6F2):c.1420C>T(p.Arg474Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000124 in 1,613,332 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. R474Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001370959.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POU6F2 | NM_001370959.1 | c.1420C>T | p.Arg474Trp | 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.1420C>T | p.Arg474Trp | missense_variant | Exon 8 of 10 | 1 | NM_001370959.1 | ENSP00000430514.3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000321 AC: 8AN: 249604Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134780
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461038Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 726674
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152294Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74464
ClinVar
Submissions by phenotype
Hypogonadotropic hypogonadism Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at