NM_024675.4(PALB2):c.442A>G (p.Lys148Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 14, 2023
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:: RCV003360871.2

Allele description [Variation Report for NM_024675.4(PALB2):c.442A>G (p.Lys148Glu)]

NM_024675.4(PALB2):c.442A>G (p.Lys148Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_024675.4(PALB2):c.442A>G (p.Lys148Glu)

HGVS:

NC_000016.10:g.23636104T>C
NG_007406.1:g.10254A>G
NM_001407296.1:c.382A>G
NM_001407297.1:c.442A>G
NM_001407298.1:c.442A>G
NM_001407299.1:c.442A>G
NM_001407300.1:c.442A>G
NM_001407301.1:c.442A>G
NM_001407302.1:c.442A>G
NM_001407304.1:c.-444A>G
NM_001407305.1:c.-444A>G
NM_001407306.1:c.-444A>G
NM_001407307.1:c.-444A>G
NM_001407308.1:c.-444A>G
NM_001407309.1:c.-444A>G
NM_001407310.1:c.-444A>G
NM_001407311.1:c.-444A>G
NM_001407312.1:c.-105+5006A>G
NM_001407313.1:c.-105+5006A>G
NM_001407314.1:c.48+5006A>G
NM_024675.4:c.442A>GMANE SELECT
NP_001394225.1:p.Lys128Glu
NP_001394226.1:p.Lys148Glu
NP_001394227.1:p.Lys148Glu
NP_001394228.1:p.Lys148Glu
NP_001394229.1:p.Lys148Glu
NP_001394230.1:p.Lys148Glu
NP_001394231.1:p.Lys148Glu
NP_078951.2:p.Lys148Glu
NP_078951.2:p.Lys148Glu
LRG_308t1:c.442A>G
LRG_308:g.10254A>G
LRG_308p1:p.Lys148Glu
NC_000016.9:g.23647425T>C
NM_024675.3:c.442A>G

Protein change:

K128E

Molecular consequence:

NM_001407304.1:c.-444A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407305.1:c.-444A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407306.1:c.-444A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407307.1:c.-444A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407308.1:c.-444A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407309.1:c.-444A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407310.1:c.-444A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407311.1:c.-444A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407312.1:c.-105+5006A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407313.1:c.-105+5006A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407314.1:c.48+5006A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407296.1:c.382A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407297.1:c.442A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407298.1:c.442A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407299.1:c.442A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407300.1:c.442A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407301.1:c.442A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407302.1:c.442A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024675.4:c.442A>G - missense variant - [Sequence Ontology: SO:0001583]

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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004057679	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 14, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004057679

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 14, 2023)

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, SCV004057679.2

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

Description

The p.K148E variant (also known as c.442A>G), located in coding exon 4 of the PALB2 gene, results from an A to G substitution at nucleotide position 442. The lysine at codon 148 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. 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: Sep 8, 2024

ClinVar

Relating variation to medicine