NM_024675.4(PALB2):c.1350_1355del (p.450NL[1]) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 19, 2022
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:: RCV000454172.5

Allele description [Variation Report for NM_024675.4(PALB2):c.1350_1355del (p.450NL[1])]

NM_024675.4(PALB2):c.1350_1355del (p.450NL[1])

Gene:

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

Variant type:

Deletion

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.4(PALB2):c.1350_1355del (p.450NL[1])

HGVS:

NC_000016.10:g.23635194_23635199del
NG_007406.1:g.11162_11167del
NM_024675.4:c.1350_1355delMANE SELECT
NP_078951.2:p.450NL[1]
NP_078951.2:p.450_451NL[1]
LRG_308t1:c.1350_1355del
LRG_308:g.11162_11167del
LRG_308p1:p.450_451NL[1]
NC_000016.9:g.23646512_23646517del
NC_000016.9:g.23646515_23646520del
NM_024675.3:c.1350_1355del
NM_024675.3:c.1350_1355delTTTAAA

Links:

dbSNP: rs755002948

NCBI 1000 Genomes Browser:

rs755002948

Molecular consequence:

NM_024675.4:c.1350_1355del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

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KDR kinase insert domain receptor [Homo sapiens]
KDR kinase insert domain receptor [Homo sapiens]
Gene ID:3791

Gene
3791[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000538139	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 19, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000538139

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 19, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000538139.8

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

Description

The c.1350_1355delTTTAAA variant is located in coding exon 4 of the PALB2 gene. This variant results from an in-frame deletion of TTTAAA between nucleotide positions 1350 and 1355 with a predicted subsequent deletion of two amino acids (p.Asn452_Leu453del) in the protein. This alteration is predicted to be deleterious by Provean in silico analysis. This nucleotide region is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

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