chr8-127416189-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001159542.3(POU5F1B):āc.323A>Gā(p.Asn108Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,613,732 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001159542.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POU5F1B | NM_001159542.3 | c.323A>G | p.Asn108Ser | missense_variant | 1/1 | ENST00000696633.1 | |
CASC8 | NR_117100.1 | n.1176+4640T>C | intron_variant, non_coding_transcript_variant | ||||
POU5F1B | NM_001395745.1 | c.323A>G | p.Asn108Ser | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POU5F1B | ENST00000696633.1 | c.323A>G | p.Asn108Ser | missense_variant | 1/1 | NM_001159542.3 | P1 | ||
CASC8 | ENST00000502082.5 | n.1176+4640T>C | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248764Hom.: 0 AF XY: 0.0000371 AC XY: 5AN XY: 134896
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461550Hom.: 0 Cov.: 114 AF XY: 0.0000193 AC XY: 14AN XY: 727068
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152182Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 09, 2024 | The c.323A>G (p.N108S) alteration is located in exon 1 (coding exon 1) of the POU5F1B gene. This alteration results from a A to G substitution at nucleotide position 323, causing the asparagine (N) at amino acid position 108 to be replaced by a serine (S). 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