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

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

Type Transcript Protein
RefSeq NM_024675.3:c.3549C>G NP_078951.2:p.Tyr1183Ter
Ensemble ENST00000261584.9:c.3549C>G ENST00000261584.9:p.Tyr1183Ter
ENST00000561514.3:c.3555C>G ENST00000561514.3:p.Tyr1185Ter
Summary

MGeND

Clinical significance
Variant entry
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 tgv394723572 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-05-14 criteria provided, single submitter Fanconi anemia complementation group N germline Detail
risk factor 2007-02-01 no assertion criteria provided Breast cancer, susceptibility to germline Detail
Pathogenic Likely pathogenic 2024-01-24 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline maternal unknown Detail
not provided 2013-09-19 no assertion provided not specified germline Detail
Pathogenic Likely pathogenic 2023-02-07 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-03-18 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic no assertion criteria provided Pancreatic cancer, susceptibility to, 3 unknown Detail
Pathogenic 2019-01-29 criteria provided, single submitter PALB2-related disorder 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
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.3549C>G (p.Tyr1183Ter) AND Fanconi anemia complementation group N ClinVar Detail
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) AND Breast cancer, susceptibility to ClinVar Detail
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) AND Familial cancer of breast ClinVar Detail
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) AND not specified ClinVar Detail
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) AND not provided ClinVar Detail
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) AND Pancreatic cancer, susceptibility to, 3 ClinVar Detail
NM_024675.4(PALB2):c.3549C>G (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
C
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)
121262
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6493213042832873E-5
Genome browser