NM_002700.3:c.230A>G
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_ModerateBP6BS1BS2
The NM_002700.3(POU4F3):āc.230A>Gā(p.Asp77Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000762 in 1,614,134 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_002700.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000375 AC: 57AN: 152126Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000875 AC: 22AN: 251426Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135900
GnomAD4 exome AF: 0.0000445 AC: 65AN: 1461890Hom.: 0 Cov.: 31 AF XY: 0.0000481 AC XY: 35AN XY: 727248
GnomAD4 genome AF: 0.000381 AC: 58AN: 152244Hom.: 0 Cov.: 33 AF XY: 0.000430 AC XY: 32AN XY: 74448
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Uncertain:1
Variant classified as Uncertain Significance - Favor Benign. The p.Asp77Gly vari ant in POU4F3 has not been previously reported in individuals with hearing loss, but has been identified in 0.1% (27/24020) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs1383106 35). Although this variant has been seen in the general population, its frequenc y is not high enough to rule out a pathogenic role. Computational prediction too ls and conservation analyses suggest that this variant may impact the protein, t hough this information is not predictive enough to determine pathogenicity. In s ummary, although the clinical significance of this variant is uncertain, the fre quency data suggest a more likely benign role. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at