chr5:112102034:ACAA> Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,102,034-112,102,037
hg38 chr5:112,766,337-112,766,340 

HGVS

Type Transcript Protein
RefSeq NM_001127511.2:c.177_180delACAA NP_001120983.2:p.Lys59AsnfsTer20
NM_000038.5:c.147_150delACAA NP_000029.2:p.Lys49AsnfsTer20
NM_001127510.2:c.147_150delACAA NP_001120982.1:p.Lys49AsnfsTer20
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 611731 OMIM
HGNC 583 HGNC
Ensembl ENSG00000134982 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv22326736 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-12-21 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-10-21 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic no assertion criteria provided Carcinoma of colon unknown Detail
Pathogenic 2023-10-15 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 1 germline unknown Detail
Pathogenic 2021-10-20 criteria provided, single submitter Familial multiple polyposis syndrome germline Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2024-01-18 criteria provided, single submitter familial adenomatous polyposis 1 germline Detail
Pathogenic 2024-01-08 criteria provided, single submitter Classic or attenuated familial adenomatous polyposis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.147_150del (p.Lys49fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000038.6(APC):c.147_150del (p.Lys49fs) AND not provided ClinVar Detail
NM_000038.6(APC):c.147_150del (p.Lys49fs) AND Carcinoma of colon ClinVar Detail
NM_000038.6(APC):c.147_150del (p.Lys49fs) AND Familial adenomatous polyposis 1 ClinVar Detail
NM_000038.6(APC):c.147_150del (p.Lys49fs) AND Familial multiple polyposis syndrome ClinVar Detail
NM_000038.6(APC):c.147_150del (p.Lys49fs) AND Gastric cancer ClinVar Detail
NM_000038.6(APC):c.147_150del (p.Lys49fs) AND Familial adenomatous polyposis 1 ClinVar Detail
NM_000038.6(APC):c.147_150del (p.Lys49fs) AND Classic or attenuated familial adenomatous polyposis 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
rs587781694 dbSNP
Genome
hg19
Position
chr5:112,102,034-112,102,037
Variant Type
snv
Reference Allele
ACAA
Alternative Allele
-
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs587781694
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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