Table 1 Candidate variants from patient 2 whole genome sequencing.
Gene | NUP107 | AMH | STAT5B |
|---|---|---|---|
Chromosome | 12 | 19 | 17 |
Position (hg19) | 69,109,467 (exon 12) | 2,250,720 (exon 3) | 40,371,472 (exon 7) |
Type | SNP | SNP | SNP |
Nucleotide change | c.1030G>A | c.482G>A | c.691G>A |
Name | rs778710781 | rs778532660 | rs917567542 |
DNA variant | Missense | Missense | Missense |
Inheritans, zygosity | AR, He | AR, He | /, He |
Associated Phenotype (MIM number) | Ovarian Dysgenesis (618,078) | Persistent Müllerian duct syndrome, type I (261,550) | Growth hormone insensitivity with immunodeficiency (245,590) |
Pathogenecity prediction | |||
Polyphen | Benign | Probably damaging | Possibly damaging |
SIFT | Tolerated | Tolerated | Tolerated |
Frequency | |||
DB % | 0.002 | 0.002 | 0.004 |
gnomAD allele % | 0.00002122 | 0.00001494 | 0.00003494 |
Molecular confirmation | |||
Sanger | Detected heterozygous | - | Detected heterozygous |
Targeted sequencing | - | Detected heterozygous | - |
