NM_024675.4(PALB2):c.1642_1643del (p.Ser548fs) AND not provided

Germline classification:: Likely 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:: RCV001030241.1

Allele description [Variation Report for NM_024675.4(PALB2):c.1642_1643del (p.Ser548fs)]

NM_024675.4(PALB2):c.1642_1643del (p.Ser548fs)

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.1642_1643del (p.Ser548fs)

HGVS:

NC_000016.10:g.23634904_23634905del
NG_007406.1:g.11454_11455del
NM_024675.4:c.1642_1643delMANE SELECT
NP_078951.2:p.Ser548fs
LRG_308t1:c.1642_1643del
LRG_308:g.11454_11455del
NC_000016.9:g.23646224_23646225del
NC_000016.9:g.23646225_23646226del
NM_024675.3:c.1642_1643del

Protein change:

S548fs

Links:

dbSNP: rs763071340

NCBI 1000 Genomes Browser:

rs763071340

Molecular consequence:

NM_024675.4:c.1642_1643del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001193128	Leiden Open Variation Database	no assertion criteria provided	Likely pathogenic (May 13, 2019)	germline	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001193128

Leiden Open Variation Database

no assertion criteria provided

Likely pathogenic
(May 13, 2019)

germline

curation

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

Details of each submission

From Leiden Open Variation Database, SCV001193128.1

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

Description

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

#	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: Nov 5, 2022

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