NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 14, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004760389.1

Allele description [Variation Report for NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)]

NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)

Gene:

PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)

Other names:

p.H1170Y:CAT>TAT

HGVS:

NC_000016.10:g.23603512G>A
NG_007406.1:g.42846C>T
NM_024675.4:c.3508C>TMANE SELECT
NP_078951.2:p.His1170Tyr
NP_078951.2:p.His1170Tyr
LRG_308t1:c.3508C>T
LRG_308:g.42846C>T
LRG_308p1:p.His1170Tyr
NC_000016.9:g.23614833G>A
NM_024675.3:c.3508C>T
Q86YC2:p.His1170Tyr
p.H1170Y

Protein change:

H1170Y

Links:

UniProtKB: Q86YC2#VAR_066384; dbSNP: rs200283306

NCBI 1000 Genomes Browser:

rs200283306

Molecular consequence:

NM_024675.4:c.3508C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005373786	German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	criteria provided, single submitter (ClinGen PALB2 V1.0.0)	Likely benign (May 14, 2024)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005373786

German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne

criteria provided, single submitter

(ClinGen PALB2 V1.0.0)

Likely benign
(May 14, 2024)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, SCV005373786.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

According to the ClinGen ACMG PALB2 v1.0.0 criteria we chose these criteria: BP1 (supporting benign): Apply to all missense variants, BS1 (strong benign): GnomAD v3: FAF non-cancer: 0.01017%

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine