NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) AND Fanconi anemia complementation group N

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 13, 2019
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:: RCV001030245.2

Allele description [Variation Report for NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)]

NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)

HGVS:

NC_000016.10:g.23634869_23634870delinsC
NG_007406.1:g.11488_11489delinsG
NM_024675.4:c.1676_1677delinsGMANE SELECT
NP_078951.2:p.Gln559fs
LRG_308:g.11488_11489delinsG
NC_000016.9:g.23646190_23646191delinsC
NM_024675.3:c.1676_1677delAAinsG

Protein change:

Q559fs

Links:

dbSNP: rs515726073

NCBI 1000 Genomes Browser:

rs515726073

Molecular consequence:

NM_024675.4:c.1676_1677delinsG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Fanconi anemia complementation group N
Identifiers:: MONDO: MONDO:0012565; MedGen: C1835817; Orphanet: 84; OMIM: 610832

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Gomesa varicosa voucher Whitten 3611 FLAS photosystem II protein D1 (psbA) gene,...
Gomesa varicosa voucher Whitten 3611 FLAS photosystem II protein D1 (psbA) gene, partial cds; psbA-trnH intergenic spacer, partial sequence; and ribosomal protein S19 gene, complete cds; chloroplast
gi|224969323|gb|FJ564682.1|

Nucleotide
Cymbidieae 18S ribosomal RNA gene, partial sequence; internal transcribed spacer...
Cymbidieae 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 26S ribosomal RNA gene, partial sequence.
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001193137	Leiden Open Variation Database	no assertion criteria provided	Pathogenic (May 13, 2019)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001193137

Leiden Open Variation Database

no assertion criteria provided

Pathogenic
(May 13, 2019)

germline

curation

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	curation

Citations

PubMed

Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia.

Serra A, Eirich K, Winkler AK, Mrasek K, Göhring G, Barbi G, Cario H, Schlegelberger B, Pokora B, Liehr T, Leriche C, Henne-Bruns D, Barth TF, Schindler D.

Mol Syndromol. 2012 Sep;3(3):120-130. Epub 2012 Aug 23.

PubMed [citation]

PMID:: 23112754
PMCID:: PMC3473353

Details of each submission

From Leiden Open Variation Database, SCV001193137.1

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

Description

Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

#	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: Sep 8, 2024

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