chr16:23619279:G>A Detail (hg19) (PALB2)

Information

Genome

Assembly Position
hg19 chr16:23,619,279-23,619,279
hg38 chr16:23,607,958-23,607,958 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024675.3:c.3256C>T NP_078951.2:p.Arg1086Ter
Ensemble ENST00000261584.9:c.3256C>T ENST00000261584.9:p.Arg1086Ter
ENST00000568219.5:c.2371C>T ENST00000568219.5:p.Arg791Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
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 2020/04/20 ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic; risk factor 2019-05-13 no assertion criteria provided Pancreatic cancer, susceptibility to, 3 germline Detail
Pathogenic 2022-11-07 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2024-01-21 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Pathogenic 2024-02-06 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely pathogenic 2019-05-01 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2022-10-06 criteria provided, single submitter germline Detail
Pathogenic 2022-03-27 criteria provided, single submitter Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N unknown Detail
Pathogenic 2022-03-27 criteria provided, single submitter Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N unknown Detail
Pathogenic 2022-03-27 criteria provided, single submitter Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N unknown Detail
Pathogenic 2022-12-12 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2023-07-07 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 5 unknown Detail
Pathogenic 2018-04-25 criteria provided, single submitter PALB2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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

DescrptionSourceLinks
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND Pancreatic cancer, susceptibility to, 3 ClinVar Detail
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND Familial cancer of breast ClinVar Detail
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND not provided ClinVar Detail
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND Malignant tumor of breast ClinVar Detail
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND multiple conditions ClinVar Detail
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND multiple conditions ClinVar Detail
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND multiple conditions ClinVar Detail
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND Breast and/or ovarian cancer ClinVar Detail
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND Gastric cancer ClinVar Detail
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) AND PALB2-related disorder ClinVar 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
rs587776527 dbSNP
Genome
hg19
Position
chr16:23,619,279-23,619,279
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121388
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.238046594391538E-6
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