chr8-127416824-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001159542.3(POU5F1B):c.958G>C(p.Gly320Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000524 in 1,604,242 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001159542.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POU5F1B | NM_001159542.3 | c.958G>C | p.Gly320Arg | missense_variant | 1/1 | ENST00000696633.1 | |
CASC8 | NR_117100.1 | n.1176+4005C>G | intron_variant, non_coding_transcript_variant | ||||
POU5F1B | NM_001395745.1 | c.958G>C | p.Gly320Arg | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POU5F1B | ENST00000696633.1 | c.958G>C | p.Gly320Arg | missense_variant | 1/1 | NM_001159542.3 | P1 | ||
CASC8 | ENST00000502082.5 | n.1176+4005C>G | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152136Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000263 AC: 6AN: 228520Hom.: 0 AF XY: 0.0000163 AC XY: 2AN XY: 122776
GnomAD4 exome AF: 0.0000572 AC: 83AN: 1452106Hom.: 0 Cov.: 107 AF XY: 0.0000430 AC XY: 31AN XY: 721186
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152136Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 11, 2022 | The c.958G>C (p.G320R) alteration is located in exon 1 (coding exon 1) of the POU5F1B gene. This alteration results from a G to C substitution at nucleotide position 958, causing the glycine (G) at amino acid position 320 to be replaced by an arginine (R). 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