chr16:23623003:G>A Detail (hg38) (PALB2)

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

Information

Genome

Assembly	Position
hg19	chr16:23,634,324-23,634,324 View the variant detail on this assembly version.
hg38	chr16:23,623,003-23,623,003

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.2962C>T	NP_078951.2:p.Gln988Ter
Ensemble	ENST00000261584.9:c.2962C>T	ENST00000261584.9:p.Gln988Ter
	ENST00000561514.3:c.2968C>T	ENST00000561514.3:p.Gln990Ter
	ENST00000566069.6:c.2962C>T	ENST00000566069.6:p.Gln988Ter
	ENST00000568219.5:c.2077C>T	ENST00000568219.5:p.Gln693Ter
	ENST00000697374.1:c.2077C>T	ENST00000697374.1:p.Gln693Ter
	ENST00000697376.1:c.2077C>T	ENST00000697376.1:p.Gln693Ter
	ENST00000697377.2:c.2806C>T	ENST00000697377.2:p.Gln936Ter
	ENST00000697379.2:c.2968C>T	ENST00000697379.2:p.Gln990Ter
	ENST00000697383.1:c.496C>T	ENST00000697383.1:p.Gln166Ter
	ENST00000713774.1:c.2962C>T	ENST00000713774.1:p.Gln988Ter

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2007-02-01	no assertion criteria provided	Fanconi anemia complementation group N	germline	Detail
risk factor	2007-02-01	no assertion criteria provided	Breast cancer, susceptibility to	germline	Detail
Pathogenic	2023-11-20	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2017-10-17	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-09-08	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	FANCONI ANEMIA, COMPLEMENTATION GROUP N	NA	CLINVAR		Detail
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) AND Fanconi anemia complementation group N	ClinVar	Detail
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) AND Breast cancer, susceptibility to	ClinVar	Detail
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) AND not provided	ClinVar	Detail
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) 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: rs118203999 dbSNP
Genome: hg38
Position: chr16:23,623,003-23,623,003
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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