114480.112

Country

United Arab Emirates

HPO Terms

Breast carcinoma

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Sex

Female

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000059.4:c.6842G>A	NA	NA	Breast Cancer
NM_024675.4:c.3464C>G	NA	NA	Breast Cancer

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Remarks

Patient was also identified with a 'likely pathogenic' mobile element insertion (MEI) of approximately 2000bp in BRCA2 gene. This MEI could be a de novo variant.

References

Deuitch et al. 2020