NM_024675.4(PALB2):c.1841T>C (p.Leu614Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 4, 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:: RCV000561839.3

Allele description [Variation Report for NM_024675.4(PALB2):c.1841T>C (p.Leu614Ser)]

NM_024675.4(PALB2):c.1841T>C (p.Leu614Ser)

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.1841T>C (p.Leu614Ser)

HGVS:

NC_000016.10:g.23630313A>G
NG_007406.1:g.16045T>C
NM_024675.4:c.1841T>CMANE SELECT
NP_078951.2:p.Leu614Ser
NP_078951.2:p.Leu614Ser
LRG_308t1:c.1841T>C
LRG_308:g.16045T>C
LRG_308p1:p.Leu614Ser
NC_000016.9:g.23641634A>G
NM_024675.3:c.1841T>C

Protein change:

L614S

Links:

dbSNP: rs1555460628

NCBI 1000 Genomes Browser:

rs1555460628

Molecular consequence:

NM_024675.4:c.1841T>C - 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

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RecName: Full=T-cell surface glycoprotein CD3 delta chain; AltName: Full=T-cell ...
RecName: Full=T-cell surface glycoprotein CD3 delta chain; AltName: Full=T-cell receptor T3 delta chain; AltName: CD_antigen=CD3d; Flags: Precursor
gi|115987|sp|P19377.1|CD3D_RAT

Protein
CD44-like protein
CD44-like protein
gi|82120056|sp|Q9W6S4|Q9W6S4_CHICK

Protein
Cpgi1742 AND (alive[prop]) (0)
Gene
Scamp1 AND (alive[prop]) (795)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000664894	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000664894

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 4, 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, SCV000664894.5

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

Description

The p.L614S variant (also known as c.1841T>C), located in coding exon 5 of the PALB2 gene, results from a T to C substitution at nucleotide position 1841. The leucine at codon 614 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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

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