Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_024675.3(PALB2):c.82T>A (p.Tyr28Asn)

CA16615316

410148 (ClinVar)

Gene: PALB2

Condition: hereditary breast cancer

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: c487a203-eeae-4551-b9e3-08c11cff1c6f

Approved on: 2023-04-05

Published on: 2023-04-07

HGVS expressions

NM_024675.3:c.82T>A

NM_024675.3(PALB2):c.82T>A (p.Tyr28Asn)

NC_000016.10:g.23638096A>T

CM000678.2:g.23638096A>T

NC_000016.9:g.23649417A>T

CM000678.1:g.23649417A>T

NC_000016.8:g.23556918A>T

NG_007406.1:g.8262T>A

ENST00000261584.9:c.82T>A

ENST00000261584.8:c.82T>A

ENST00000561514.1:c.88T>A

ENST00000567003.1:n.360T>A

ENST00000568219.5:c.-804T>A

NM_024675.4:c.82T>A

NM_024675.4(PALB2):c.82T>A (p.Tyr28Asn)

Uncertain Significance

PM2_Supporting BP1

BA1 BS1 PP3

Evidence Links 0

Expert Panel

Hereditary Breast, Ovarian and Pancreatic Cancer VCEP

Criteria Specification Information

Criteria Specification: ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hereditary Breast, Ovarian and Pancreatic Cancer VCEP

The c.82T>A variant in PALB2 is a missense variant predicted to cause substitution of tyrosine by asparagine at amino acid 28 (p.Tyr28Asn). This variant is absent from gnomAD v2.1.1. PALB2, in which the variant was identified, is defined by the HBOP VCEP as a gene for which primarily truncating variants are known to cause disease. In summary, this variant meets the criteria to be classified as a variant of uncertain significance for autosomal dominant hereditary breast and pancreatic cancer and autosomal recessive FANCN based on the ACMG/AMP criteria applied as specified by the HBOP VCEP (PM2_Supporting, BP1).

PM2_Supporting

This variant is absent from gnomAD v2.1.1 and v3.1.1 (PM2_Supporting).

BP1

PALB2, in which the variant was identified, is defined by the HBOP VCEP as a gene for which primarily truncating variants are known to cause disease.

BA1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BS1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PP3

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

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