NM_024675.4(PALB2):c.3088A>G (p.Thr1030Ala) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 25, 2018
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:: RCV001030377.2

Allele description [Variation Report for NM_024675.4(PALB2):c.3088A>G (p.Thr1030Ala)]

NM_024675.4(PALB2):c.3088A>G (p.Thr1030Ala)

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.3088A>G (p.Thr1030Ala)

HGVS:

NC_000016.10:g.23621387T>C
NG_007406.1:g.24971A>G
NM_024675.4:c.3088A>GMANE SELECT
NP_078951.2:p.Thr1030Ala
LRG_308t1:c.3088A>G
LRG_308:g.24971A>G
NC_000016.9:g.23632708T>C
NM_024675.3:c.3088A>G

Protein change:

T1030A

Links:

dbSNP: rs1040452708

NCBI 1000 Genomes Browser:

rs1040452708

Molecular consequence:

NM_024675.4:c.3088A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001193343	Leiden Open Variation Database	no assertion criteria provided	Uncertain significance (Aug 25, 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

SCV001193343

Leiden Open Variation Database

no assertion criteria provided

Uncertain significance
(Aug 25, 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	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 Leiden Open Variation Database, SCV001193343.1

#	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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