X-8534382-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 4P and 12B. PP3_StrongBP6_Very_StrongBS2
The NM_000216.4(ANOS1):c.1921G>A(p.Gly641Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000513 in 1,208,877 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 19 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.
Frequency
Consequence
NM_000216.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000987 AC: 11AN: 111462Hom.: 0 Cov.: 22 AF XY: 0.000149 AC XY: 5AN XY: 33632
GnomAD3 exomes AF: 0.0000383 AC: 7AN: 182774Hom.: 0 AF XY: 0.0000297 AC XY: 2AN XY: 67304
GnomAD4 exome AF: 0.0000465 AC: 51AN: 1097415Hom.: 0 Cov.: 30 AF XY: 0.0000386 AC XY: 14AN XY: 362779
GnomAD4 genome AF: 0.0000987 AC: 11AN: 111462Hom.: 0 Cov.: 22 AF XY: 0.000149 AC XY: 5AN XY: 33632
ClinVar
Submissions by phenotype
Hypogonadotropic hypogonadism 1 with or without anosmia Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at