chr16:23603471:G>T Detail (hg38) (PALB2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr16:23,614,792-23,614,792 View the variant detail on this assembly version.
hg38	chr16:23,603,471-23,603,471

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.3549C>A	NP_078951.2:p.Tyr1183Ter
Ensemble	ENST00000261584.9:c.3549C>A	ENST00000261584.9:p.Tyr1183Ter
	ENST00000561514.3:c.3555C>A	ENST00000561514.3:p.Tyr1185Ter
	ENST00000566069.6:c.*184C>A
	ENST00000568219.5:c.2664C>A	ENST00000568219.5:p.Tyr888Ter
	ENST00000697374.1:c.2664C>A	ENST00000697374.1:p.Tyr888Ter
	ENST00000697376.1:c.*184C>A
	ENST00000697377.2:c.3393C>A	ENST00000697377.2:p.Tyr1131Ter
	ENST00000697379.2:c.3555C>A	ENST00000697379.2:p.Tyr1185Ter
	ENST00000697383.1:c.1083C>A	ENST00000697383.1:p.Tyr361Ter
	ENST00000713774.1:c.3312C>A	ENST00000713774.1:p.Tyr1104Ter

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
Pathogenic	2022-12-14	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-04-05	reviewed by expert panel	Familial cancer of breast	germline maternal unknown	Detail
Pathogenic	2022-03-17	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2019-11-05	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2022-02-15	criteria provided, single submitter	Fanconi anemia complementation group N,Familial cancer of breast,Pancreatic cancer, susceptibility to, 3	unknown	Detail
Pathogenic	2022-02-15	criteria provided, single submitter	Fanconi anemia complementation group N,Familial cancer of breast,Pancreatic cancer, susceptibility to, 3	unknown	Detail
Pathogenic	2022-02-15	criteria provided, single submitter	Fanconi anemia complementation group N,Familial cancer of breast,Pancreatic cancer, susceptibility to, 3	unknown	Detail
Pathogenic	2023-12-28	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1	maternal	Detail
Pathogenic	2024-02-26	criteria provided, single submitter	PALB2-related disorder	germline	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
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.3549C>A (p.Tyr1183Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) AND Familial cancer of breast	ClinVar	Detail
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) AND not provided	ClinVar	Detail
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) AND multiple conditions	ClinVar	Detail
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) AND PALB2-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs118203998 dbSNP
Genome: hg38
Position: chr16:23,603,471-23,603,471
Variant Type: snv
Reference Allele: G
Alternative Allele: T

Genome browser