rs606231408
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1_SupportingBS2
The NM_001206389.2(FGF8):c.-76C>G variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000459 in 1,613,704 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_001206389.2 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152276Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000957 AC: 24AN: 250872Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135720
GnomAD4 exome AF: 0.0000472 AC: 69AN: 1461428Hom.: 0 Cov.: 32 AF XY: 0.0000756 AC XY: 55AN XY: 727056
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152276Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74400
ClinVar
Submissions by phenotype
Hypogonadotropic hypogonadism 6 with or without anosmia Pathogenic:1
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FGF8-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at