chr16:23641246:A>T Detail (hg19) (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	chr16:23,641,246-23,641,246
hg38	chr16:23,629,925-23,629,925 View the variant detail on this assembly version.

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.2229T>A	NP_078951.2:p.Tyr743Ter
Ensemble	ENST00000261584.9:c.2229T>A	ENST00000261584.9:p.Tyr743Ter
	ENST00000561514.3:c.2235T>A	ENST00000561514.3:p.Tyr745Ter
	ENST00000566069.6:c.2229T>A	ENST00000566069.6:p.Tyr743Ter
	ENST00000568219.5:c.1344T>A	ENST00000568219.5:p.Tyr448Ter
	ENST00000697374.1:c.1344T>A	ENST00000697374.1:p.Tyr448Ter
	ENST00000697376.1:c.1344T>A	ENST00000697376.1:p.Tyr448Ter
	ENST00000697377.2:c.2235T>A	ENST00000697377.2:p.Tyr745Ter
	ENST00000697379.2:c.2235T>A	ENST00000697379.2:p.Tyr745Ter
	ENST00000697383.1:c.49-650T>A
	ENST00000713774.1:c.2229T>A	ENST00000713774.1:p.Tyr743Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2018/01/13	breast, unspecified	germline	MGS000028 (TMGS000049)	Yukihide Momozawa	RIKEN	30287823
Pathogenic	2021/03/19	breast	germline	MGS000048 (TMGS000112)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-07-28	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2021-09-17	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-09-12	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) AND not provided	ClinVar	Detail
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) AND Familial cancer of breast	ClinVar	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: rs730881888 dbSNP
Genome: hg19
Position: chr16:23,641,246-23,641,246
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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