chr16:23646190:TT>C Detail (hg19) (PALB2)

Information

Genome

Assembly Position
hg19 chr16:23,646,190-23,646,191
hg38 chr16:23,634,869-23,634,870 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024675.3:c.1676_1677delinsG NP_078951.2:p.Gln559ArgfsTer2
Ensemble ENST00000566069.6:c.1676_1677delinsG ENST00000566069.6:p.Gln559ArgfsTer2
ENST00000697383.1:c.49-5595_49-5594delinsG
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
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 2023-02-28 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-01-20 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2019-05-13 no assertion criteria provided Fanconi anemia complementation group N germline Detail
Pathogenic 2023-09-11 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
Annotation

Annotations

DescrptionSourceLinks
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) AND not provided ClinVar Detail
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) AND Fanconi anemia complementation group N ClinVar Detail
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) 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
rs515726073 dbSNP
Genome
hg19
Position
chr16:23,646,190-23,646,191
Variant Type
snv
Reference Allele
TT
Alternative Allele
C
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