chr5:112767189:A>G Detail (hg38) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,102,886-112,102,886 View the variant detail on this assembly version.
hg38 chr5:112,767,189-112,767,189

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.221A>G NP_000029.2:p.Glu74Gly
NM_001127511.2:c.251A>G NP_001120983.2:p.Glu84Gly
NM_001127510.2:c.221A>G NP_001120982.1:p.Glu74Gly
Summary

MGeND

Clinical significance Likely benign
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 Uncertain significance
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 tgv22326816 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely benign 2022/12/28 benign neoplasm of ovary germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2019-07-09 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-01-08 criteria provided, single submitter familial adenomatous polyposis 1 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.221A>G (p.Glu74Gly) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000038.6(APC):c.221A>G (p.Glu74Gly) AND Familial adenomatous polyposis 1 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
rs773347338 dbSNP
Genome
hg38
Position
chr5:112,767,189-112,767,189
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs773347338
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser