Table 2.
Summary of FANCA variants
| Gene | Genomic location | HGVS DNA reference | HGVS protein reference | Variant type | Predicted effect | Observed effect | dbSNP/dbVar ID | Parent of origin |
|---|---|---|---|---|---|---|---|---|
| FANCA | 16q24.3 |
NG_011706.1:
g.80814_80816delTCT NM_0.000135.4: c.3788_3790delTCT |
NP_000126.2: p.F1263del | Deletion | Pathogenic | Pathogenic | 397507553/41003 | Unknown |
| FANCA | 16q24.3 |
NG_011706.1:g.82715G > A NM_000135.4: c.4199G > A |
NP_000126.2: p.R1400H | Substitution (missense mutation) | Uncertain significance | Likely pathogenic; hypomorphic | 149851163/408175 | Unknown |
Prevention Genetics Fanconi Anemia Nextgen sequencing panel tested full coding regions plus ∼20 bases of noncoding DNA flanking each exon of these genes: BRIP1, FANCM, PALB2, FANCL, FANCA, FANCC, FANCG, FANCE, FANCF, FANCB, FANCI, SLX4, ERCC4, FANCD2 isoform A and B, RAD51C.