chr16:23646595:G>A Detail (hg19) (PALB2)

Information

Genome

Assembly Position
hg19 chr16:23,646,595-23,646,595
hg38 chr16:23,635,274-23,635,274 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024675.3:c.1272C>T NP_078951.2:p.Ala424=
Ensemble ENST00000261584.9:c.1272C>T ENST00000261584.9:p.Ala424=
ENST00000561514.3:c.1278C>T ENST00000561514.3:p.Ala426=
Summary

MGeND

Clinical significance Likely benign
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 Benign Likely benign
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
Likely benign 2020/04/20 malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2015-04-24 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign Likely benign 2024-01-24 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Likely benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2022-07-06 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely benign 2022-02-18 criteria provided, single submitter Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N unknown Detail
Likely benign 2022-02-18 criteria provided, single submitter Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N unknown Detail
Likely benign 2022-02-18 criteria provided, single submitter Familial cancer of breast,Pancreatic cancer, susceptibility to, 3,Fanconi anemia complementation group N unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND Familial cancer of breast ClinVar Detail
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND not specified ClinVar Detail
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND not provided ClinVar Detail
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND multiple conditions ClinVar Detail
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND multiple conditions ClinVar Detail
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) AND multiple conditions ClinVar 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
rs754720030 dbSNP
Genome
hg19
Position
chr16:23,646,595-23,646,595
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8644
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)
120584
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)
1.6585948384528626E-5
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