chr9:35076758:G>A Detail (hg38) (FANCG, VCP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:35,076,755-35,076,755 View the variant detail on this assembly version. |
| hg38 | chr9:35,076,758-35,076,758 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004629.1:c.890C>T | NP_004620.1:p.Thr297Ile |
| Ensemble | ENST00000378643.8:c.890C>T | ENST00000378643.8:p.Thr297Ile |
| ENST00000448890.2:c.890C>T | ENST00000448890.2:p.Thr297Ile |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.105 |
| ToMMo:0.113 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.030 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
Likely benign
|
2021-12-10 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Likely benign
|
2016-06-14 | criteria provided, single submitter | Inclusion Body Myopathy, Dominant |
germline
|
Detail |
|
Benign
Likely benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | Fanconi anemia |
germline
|
Detail |
|
Likely benign
|
2016-06-14 | criteria provided, single submitter | Amyotrophic Lateral Sclerosis, Dominant |
germline
|
Detail |
|
Benign
|
2019-04-24 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2023-07-07 | criteria provided, multiple submitters, no conflicts | Fanconi anemia complementation group G |
germline
|
Detail |
|
Benign
|
2019-03-01 | criteria provided, single submitter | FANCG-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.156 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.005 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.004 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.002 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.012 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.004 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) AND not specified | ClinVar | Detail |
| NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) AND Inclusion Body Myopathy, Dominant | ClinVar | Detail |
| NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) AND Fanconi anemia | ClinVar | Detail |
| NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) AND Amyotrophic Lateral Sclerosis, Dominant | ClinVar | Detail |
| NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) AND not provided | ClinVar | Detail |
| NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) AND Fanconi anemia complementation group G | ClinVar | Detail |
| NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) AND FANCG-related disorder | ClinVar | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | 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
- rs2237857 dbSNP
- Genome
- hg38
- Position
- chr9:35,076,758-35,076,758
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 282.37
- Standard deviation of sample read depth (HGVD)
- 145.11
- Number of reference allele (HGVD)
- 2167
- Number of alternative allele (HGVD)
- 253
- Allele Frequency (HGVD)
- 0.10454545454545454
- Gene Symbol (HGVD)
- FANCG
- 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))
- rs2237857
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1128
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1890
- 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)
- 262
- East Asian Heterozygous Counts (ExAC)
- 254
- East Asian Homozygous Counts (ExAC)
- 4
- East Asian Allele Frequency (ExAC)
- 0.030275017333025192
- Chromosome Counts in All Race (ExAC)
- 121406
- Allele Counts in All Race (ExAC)
- 2150
- Heterozygous Counts in All Race (ExAC)
- 2006
- Homozygous Counts in All Race (ExAC)
- 72
- Allele Frequency in All Race (ExAC)
- 0.01770917417590564
Genome browser