chr5:112103053:A>G Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,103,053-112,103,053
hg38 chr5:112,767,356-112,767,356 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127511.2:c.418A>G NP_001120983.2:p.Ser140Gly
NM_001127510.2:c.388A>G NP_001120982.1:p.Ser130Gly
NM_000038.5:c.388A>G NP_000029.2:p.Ser130Gly
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 2
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 Conflicting classifications of pathogenicity
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
COSMIC COSM19131 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2021/03/19 Colorectal germline MGS000050
(TMGS000114) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-03-08 criteria provided, conflicting interpretations not provided germline unknown Detail
Likely benign 2018-07-02 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 1 unknown Detail
Conflicting interpretations of pathogenicity 2022-09-27 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Benign Likely benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2016-08-01 no assertion criteria provided Familial multiple polyposis syndrome germline Detail
Uncertain significance 2018-01-26 criteria provided, single submitter APC-Associated Polyposis Disorders germline Detail
Benign 2024-01-31 criteria provided, single submitter familial adenomatous polyposis 1 germline Detail
Likely benign 2020-08-24 criteria provided, single submitter APC-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.388A>G (p.Ser130Gly) AND not provided ClinVar Detail
NM_000038.6(APC):c.388A>G (p.Ser130Gly) AND Familial adenomatous polyposis 1 ClinVar Detail
NM_000038.6(APC):c.388A>G (p.Ser130Gly) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000038.6(APC):c.388A>G (p.Ser130Gly) AND not specified ClinVar Detail
NM_000038.6(APC):c.388A>G (p.Ser130Gly) AND Familial multiple polyposis syndrome ClinVar Detail
NM_000038.6(APC):c.388A>G (p.Ser130Gly) AND APC-Associated Polyposis Disorders ClinVar Detail
NM_000038.6(APC):c.388A>G (p.Ser130Gly) AND Familial adenomatous polyposis 1 ClinVar Detail
NM_000038.6(APC):c.388A>G (p.Ser130Gly) AND APC-related disorder 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
rs150973053 dbSNP
Genome
hg19
Position
chr5:112,103,053-112,103,053
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8648
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)
121370
Allele Counts in All Race (ExAC)
25
Heterozygous Counts in All Race (ExAC)
25
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.0598170882425642E-4
Genome browser