The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Variant: NM_024675.3(PALB2):c.3362del (p.Gly1121fs)
CA167019
126739 (ClinVar)
Gene: PALB2
Condition: hereditary breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: d8eca774-205b-4826-8339-70e62b4579eb
Approved on: 2023-04-05
Published on: 2023-04-07
HGVS expressions
NM_024675.3:c.3362delG
NM_024675.3(PALB2):c.3362del (p.Gly1121fs)
NC_000016.10:g.23603659del
CM000678.2:g.23603659del
NC_000016.9:g.23614980del
CM000678.1:g.23614980del
NC_000016.8:g.23522481del
NG_007406.1:g.42700del
ENST00000261584.9:c.3362del
ENST00000261584.8:c.3362del
ENST00000566069.5:n.128del
ENST00000568219.5:c.2477del
NM_024675.3:c.3362del
NM_024675.4:c.3362del
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
Evidence submitted by expert panel
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.