NM_024675.4(PALB2):c.353T>C (p.Ile118Thr) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 24, 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:: RCV000212774.8

Allele description [Variation Report for NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)]

NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)

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.353T>C (p.Ile118Thr)

Other names:

p.I118T:ATA>ACA

HGVS:

NC_000016.10:g.23636193A>G
NG_007406.1:g.10165T>C
NM_024675.4:c.353T>CMANE SELECT
NP_078951.2:p.Ile118Thr
NP_078951.2:p.Ile118Thr
LRG_308t1:c.353T>C
LRG_308:g.10165T>C
LRG_308p1:p.Ile118Thr
NC_000016.9:g.23647514A>G
NM_024675.3:c.353T>C
p.I118T

Protein change:

I118T

Links:

dbSNP: rs370404126

NCBI 1000 Genomes Browser:

rs370404126

Molecular consequence:

NM_024675.4:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Tpgs2 tubulin polyglutamylase complex subunit 2 [Mus musculus]
Tpgs2 tubulin polyglutamylase complex subunit 2 [Mus musculus]
Gene ID:66648

Gene
66648[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000150016	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 24, 2023)	germline	clinical testing	Citation Link,
SCV001192966	Leiden Open Variation Database	no assertion criteria provided	Uncertain significance (Oct 10, 2018)	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

SCV000150016

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 24, 2023)

germline

clinical testing

Citation Link,

SCV001192966

Leiden Open Variation Database

no assertion criteria provided

Uncertain significance
(Oct 10, 2018)

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	clinical testing, curation

Citations

PubMed

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.

Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.

PubMed [citation]

PMID:: 30287823
PMCID:: PMC6172276

Details of each submission

From GeneDx, SCV000150016.15

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27783279, 24584348, 28779002, 26283626, 30287823, 32980694, 33471991)

#	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

From Leiden Open Variation Database, SCV001192966.1

#	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: Yukihide Momozawa.

#	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 29, 2024

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