NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) AND Breast-ovarian cancer, familial, susceptibility to, 5

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 12, 2023
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:: RCV005359053.1

Allele description [Variation Report for NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)]

NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)

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.656A>G (p.Asp219Gly)

Other names:

p.D219G:GAC>GGC

HGVS:

NC_000016.10:g.23635890T>C
NG_007406.1:g.10468A>G
NM_024675.4:c.656A>GMANE SELECT
NP_078951.2:p.Asp219Gly
NP_078951.2:p.Asp219Gly
LRG_308t1:c.656A>G
LRG_308:g.10468A>G
LRG_308p1:p.Asp219Gly
NC_000016.9:g.23647211T>C
NM_024675.3:c.656A>G
Q86YC2:p.Asp219Gly
p.D219G

Protein change:

D219G

Links:

UniProtKB: Q86YC2#VAR_066362; dbSNP: rs45594034

NCBI 1000 Genomes Browser:

rs45594034

Molecular consequence:

NM_024675.4:c.656A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 5 (BROVCA5)
Identifiers:: MONDO: MONDO:0957530; MedGen: C5830615; OMIM: 620442

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005913298	Department of Pathology and Laboratory Medicine, Sinai Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 12, 2023)	germline	clinical testing	PubMed (10) [See all records that cite these PMIDs] 33471991, 21618343, 23448497, 17200668, 20722467, 23935836, 26283626, 26976419, 20122277, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005913298

Department of Pathology and Laboratory Medicine, Sinai Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 12, 2023)

germline

clinical testing

PubMed (10)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.

N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

PubMed [citation]

PMID:: 33471991
PMCID:: PMC7611105

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

Hellebrand H, Sutter C, Honisch E, Gross E, Wappenschmidt B, Schem C, Deissler H, Ditsch N, Gress V, Kiechle M, Bartram CR, Schmutzler RK, Niederacher D, Arnold N, Meindl A.

Hum Mutat. 2011 Jun;32(6):E2176-88. doi: 10.1002/humu.21478. Epub 2011 Feb 24.

PubMed [citation]

PMID:: 21618343

See all PubMed Citations (10)

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System, SCV005913298.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (10)

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

Last Updated: Jul 13, 2025

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