NM_024675.3(PALB2):c.1881G>T (p.Val627=) AND Familial cancer of breast

delete

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 16, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000114500.8

Allele description

NM_024675.3(PALB2):c.1881G>T (p.Val627=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.3(PALB2):c.1881G>T (p.Val627=)

Other names:

p.V627V:GTG>GTT

HGVS:

NC_000016.10:g.23630273C>A
NG_007406.1:g.16085G>T
NM_024675.3:c.1881G>T
NP_078951.2:p.Val627=
LRG_308t1:c.1881G>T
LRG_308:g.16085G>T
LRG_308p1:p.Val627=
NC_000016.9:g.23641594C>A
p.(=)
p.V627V
p.Val627Val
r.(?)

Protein change:

Val627Val

Links:

PALB2 database: PALB2_10091; dbSNP: rs139362268

NCBI 1000 Genomes Browser:

rs139362268

Molecular consequence:

NM_024675.3:c.1881G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: CHEK2-Related Breast Cancer
Identifiers:: MedGen: C0006142; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000148446	PALB2 database	no assertion criteria provided	Likely benign (Jul 16, 2012)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 21365267, 22692731, 21285249

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000148446

PALB2 database

no assertion criteria provided

Likely benign
(Jul 16, 2012)

germline

literature only

PubMed (3)
[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	literature only

Citations

PubMed

PALB2 mutations in familial breast and pancreatic cancer.

Hofstatter EW, Domchek SM, Miron A, Garber J, Wang M, Componeschi K, Boghossian L, Miron PL, Nathanson KL, Tung N.

Fam Cancer. 2011 Jun;10(2):225-31. doi: 10.1007/s10689-011-9426-1.

PubMed [citation]

PMID:: 21365267
PMCID:: PMC3836668

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.

Catucci I, Milgrom R, Kushnir A, Laitman Y, Paluch-Shimon S, Volorio S, Ficarazzi F, Bernard L, Radice P, Friedman E, Peterlongo P.

Fam Cancer. 2012 Sep;11(3):483-91. doi: 10.1007/s10689-012-9540-8.

PubMed [citation]

PMID:: 22692731

See all PubMed Citations (3)

Details of each submission

From PALB2 database, SCV000148446.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

#	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: Mar 5, 2020

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