chr16:23635237:T> Detail (hg38) (PALB2)

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

Genome

Assembly	Position
hg19	chr16:23,646,558-23,646,558
hg38	chr16:23,635,237-23,635,237

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.1309delA	NP_078951.2:p.Phe440LeufsTer12
Ensemble	ENST00000261584.9:c.1309delA	ENST00000261584.9:p.Phe440LeufsTer12
	ENST00000561514.3:c.1315delA	ENST00000561514.3:p.Phe442LeufsTer12
	ENST00000566069.6:c.1309delA	ENST00000566069.6:p.Phe440LeufsTer12
	ENST00000568219.5:c.424delA	ENST00000568219.5:p.Phe145LeufsTer12
	ENST00000697374.1:c.424delA	ENST00000697374.1:p.Phe145LeufsTer12
	ENST00000697376.1:c.424delA	ENST00000697376.1:p.Phe145LeufsTer12
	ENST00000697377.2:c.1315delA	ENST00000697377.2:p.Phe442LeufsTer12
	ENST00000697379.2:c.1315delA	ENST00000697379.2:p.Phe442LeufsTer12
	ENST00000697383.1:c.48+5873delA
	ENST00000713774.1:c.1309delA	ENST00000713774.1:p.Phe440LeufsTer12

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM3279861	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2019-05-13	no assertion criteria provided	not provided	germline	Detail
Pathogenic	2023-09-08	criteria provided, single submitter	Familial cancer of breast	unknown	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.1314del (p.Phe440fs) AND not provided	ClinVar	Detail
NM_024675.4(PALB2):c.1314del (p.Phe440fs) AND Familial cancer of breast	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: rs515726065 dbSNP
Genome: hg38
Position: chr16:23,635,237-23,635,237
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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