chr2:43873860:A>G Detail (hg38) (ABCG8)

Information

Genome

Assembly Position
hg19 chr2:44,100,999-44,100,999 View the variant detail on this assembly version.
hg38 chr2:43,873,860-43,873,860

HGVS

Type Transcript Protein
RefSeq NM_022437.2:c.1285A>G NP_071882.1:p.Met429Val
Ensemble ENST00000272286.4:c.1285A>G ENST00000272286.4:p.Met429Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.022
ToMMo:0.021
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.004

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 605460 OMIM
HGNC 13887 HGNC
Ensembl ENSG00000143921 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv6683289 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-18 criteria provided, conflicting interpretations not provided germline Detail
Conflicting interpretations of pathogenicity 2023-09-24 criteria provided, conflicting interpretations Sitosterolemia 1 germline Detail
Uncertain significance 2023-08-15 criteria provided, single submitter not specified germline Detail
Likely benign 2023-10-01 criteria provided, single submitter ABCG8-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.026 Hypercholesterolemia Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABC... BeFree 18522623 Detail
0.149 cholelithiasis Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABC... BeFree 18522623 Detail
0.131 cholecystolithiasis Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABC... BeFree 18522623 Detail
0.144 cholecystolithiasis Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABC... BeFree 18522623 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) AND not provided ClinVar Detail
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) AND Sitosterolemia 1 ClinVar Detail
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) AND not specified ClinVar Detail
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) AND ABCG8-related disorder ClinVar Detail
Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have... DisGeNET Detail
Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have... DisGeNET Detail
Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have... DisGeNET Detail
Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have... 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
rs147194762 dbSNP
Genome
hg38
Position
chr2:43,873,860-43,873,860
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
184.93
Standard deviation of sample read depth (HGVD)
82.61
Number of reference allele (HGVD)
2367
Number of alternative allele (HGVD)
53
Allele Frequency (HGVD)
0.021900826446280993
Gene Symbol (HGVD)
ABCG8
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))
rs147194762
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0209
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
350
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
36
East Asian Heterozygous Counts (ExAC)
36
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.004159926045759187
Chromosome Counts in All Race (ExAC)
121412
Allele Counts in All Race (ExAC)
53
Heterozygous Counts in All Race (ExAC)
53
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.365301617632524E-4
Genome browser