NM_024675.3(PALB2):c.757_758delCT AND Fanconi anemia, complementation group N

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 4, 2015
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:: RCV000114659.2

Allele description

NM_024675.3(PALB2):c.757_758delCT

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.3(PALB2):c.757_758delCT

Other names:

757_758delCT

HGVS:

NC_000016.10:g.23635788_23635789AG[1]
NG_007406.1:g.10567_10568CT[1]
NP_078951.2:p.Leu253fs
LRG_308t1:c.755_756CT[1]
LRG_308t1:c.757_758del
LRG_308:g.10567_10568CT[1]
LRG_308p1:p.Leu253fs
NC_000016.9:g.23647109_23647110AG[1]
NM_024675.3:c.755_756CT[1]
NM_024675.3:c.757_758delCT
p.(Leu253Ilefs*3)
p.(Leu253fs*)
p.L253Ifs*3
p.L253IfsX3
p.Leu253Ilefs*3
p.Leu253IlefsX3
r.(?)
r.(del)

Links:

PALB2 database: FANCN_00005; PALB2 database: PALB2_00005; dbSNP: rs180177092

NCBI 1000 Genomes Browser:

rs180177092

Condition(s)

Name:: Fanconi anemia, complementation group N (FANCN)
Identifiers:: MedGen: C1835817; Orphanet: 84; OMIM: 610832

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000148606	PALB2 database	no assertion criteria provided	Pathogenic (Jul 16, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000248444	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 4, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000148606

PALB2 database

no assertion criteria provided

Pathogenic
(Jul 16, 2012)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000248444

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 4, 2015)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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, literature only

Citations

PubMed

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.

Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, Rahman N.

Nat Genet. 2007 Feb;39(2):162-4. Epub 2006 Dec 31.

PubMed [citation]

PMID:: 17200671

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PALB2 database, SCV000148606.1

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

#	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

From Genetic Services Laboratory, University of Chicago, SCV000248444.1

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

#	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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