chr16:23646840:G>A Detail (hg19) (PALB2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr16:23,646,840-23,646,840
hg38	chr16:23,635,519-23,635,519 View the variant detail on this assembly version.

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.1027C>T	NP_078951.2:p.Gln343Ter
Ensemble	ENST00000568219.5:c.142C>T	ENST00000568219.5:p.Gln48Ter
	ENST00000697377.2:c.1033C>T	ENST00000697377.2:p.Gln345Ter
	ENST00000697374.1:c.142C>T	ENST00000697374.1:p.Gln48Ter
	ENST00000713774.1:c.1027C>T	ENST00000713774.1:p.Gln343Ter
	ENST00000566069.6:c.1027C>T	ENST00000566069.6:p.Gln343Ter
	ENST00000697379.2:c.1033C>T	ENST00000697379.2:p.Gln345Ter
	ENST00000261584.9:c.1027C>T	ENST00000261584.9:p.Gln343Ter
	ENST00000697383.1:c.48+5591C>T
	ENST00000561514.3:c.1033C>T	ENST00000561514.3:p.Gln345Ter
	ENST00000697376.1:c.142C>T	ENST00000697376.1:p.Gln48Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

PALB2

Type	Database	ID	Link
Gene	MIM	610355	OMIM
	HGNC	26144	HGNC
	Ensembl	ENSG00000083093	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
risk factor	2014-09-01	no assertion criteria provided	Breast cancer, susceptibility to	germline	Detail
Pathogenic	2023-12-13	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-02-15	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-01-03	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Pathogenic	2022-08-26	no assertion criteria provided	hereditary breast ovarian cancer syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.127	Breast Cancer, Familial	NA	CLINVAR		Detail
0.120	Pancreatic cancer, susceptibility to, 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) AND Breast cancer, susceptibility to	ClinVar	Detail
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) AND not provided	ClinVar	Detail
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) AND Familial cancer of breast	ClinVar	Detail
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs180177097 dbSNP
Genome: hg19
Position: chr16:23,646,840-23,646,840
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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