chr1:161514542:A>C Detail (hg19) (FCGR3A)

Information

Genome

Assembly Position
hg19 chr1:161,514,542-161,514,542
hg38 chr1:161,544,752-161,544,752 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127593.1:c.526T>G NP_001121065.1:p.Phe176Val
NM_001127595.1:c.526T>G NP_001121067.1:p.Phe176Val
NM_001127596.1:c.526T>G NP_001121068.1:p.Phe176Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.246
ToMMo:0.278
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.327

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 146740 OMIM
HGNC 3619 HGNC
Ensembl ENSG00000203747 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3529196 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2024-01-24 criteria provided, multiple submitters, no conflicts not specified germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
breast cancer B Prognostic Does Not Support N/A Common Germline 3 22906996 Detail
breast cancer Trastuzumab B Predictive Does Not Support N/A Common Germline 4 24989892 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 rheumatoid arthritis We conducted a meta-analysis on the association between FCGR2A H131R (rs1801274)... BeFree 26314337 Detail
0.008 celiac disease We studied the FcgammaRIIa*A519G (rs1801274) and FcgammaRIIIa*A559C (rs396991) s... BeFree 19140833 Detail
<0.001 periodontitis Associations between FCGR2A rs1801274, FCGR3A rs396991, FCGR3B NA1/NA2 polymorph... BeFree 23649770 Detail
<0.001 asthma Functional SNPs of FCGR2A (FcγRIIA-131His&gt;Arg, rs1801274), FCGR2B (FcγRIIB-18... BeFree 24586589 Detail
0.003 asthma Functional SNPs of FCGR2A (FcγRIIA-131His&gt;Arg, rs1801274), FCGR2B (FcγRIIB-18... BeFree 24586589 Detail
0.003 asthma Functional SNPs of FCGR2A (FcγRIIA-131His&gt;Arg, rs1801274), FCGR2B (FcγRIIB-18... BeFree 24586589 Detail
0.003 Autoimmune Diseases These results suggest that FCGR3A-158F/V (rs396991) gene polymorphism play a rol... BeFree 23075294 Detail
0.073 rheumatoid arthritis Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumato... BeFree 18565259 Detail
0.062 rheumatoid arthritis Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumato... BeFree 18565259 Detail
Annotation

Annotations

DescrptionSourceLinks
A total of 57 women with HER2-positive metastatic breast cancer were analyzed after taxane plus tras... CIViC Evidence Detail
1325 HER2-positive breast cancer patients treated with trastuzumab and chemotherapy from the N9831 c... CIViC Evidence Detail
NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val) AND not specified ClinVar Detail
We conducted a meta-analysis on the association between FCGR2A H131R (rs1801274), FCGR3A F158V (rs39... DisGeNET Detail
We studied the FcgammaRIIa*A519G (rs1801274) and FcgammaRIIIa*A559C (rs396991) single nucleotide pol... DisGeNET Detail
Associations between FCGR2A rs1801274, FCGR3A rs396991, FCGR3B NA1/NA2 polymorphisms and periodontit... DisGeNET Detail
Functional SNPs of FCGR2A (FcγRIIA-131His&gt;Arg, rs1801274), FCGR2B (FcγRIIB-187Ile&gt;Thr, rs10505... DisGeNET Detail
Functional SNPs of FCGR2A (FcγRIIA-131His&gt;Arg, rs1801274), FCGR2B (FcγRIIB-187Ile&gt;Thr, rs10505... DisGeNET Detail
Functional SNPs of FCGR2A (FcγRIIA-131His&gt;Arg, rs1801274), FCGR2B (FcγRIIB-187Ile&gt;Thr, rs10505... DisGeNET Detail
These results suggest that FCGR3A-158F/V (rs396991) gene polymorphism play a role in the response to... DisGeNET Detail
Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated... DisGeNET Detail
Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated... 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
rs396991 dbSNP
Genome
hg19
Position
chr1:161,514,542-161,514,542
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
VQSRTrancheSNP99.00to99.90
# of samples (HGVD)
733
Mean of sample read depth (HGVD)
12.82
Standard deviation of sample read depth (HGVD)
25.00
Number of reference allele (HGVD)
1106
Number of alternative allele (HGVD)
360
Allele Frequency (HGVD)
0.24556616643929058
Gene Symbol (HGVD)
FCGR3A
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))
rs396991
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2783
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4663
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8562
East Asian Allele Counts (ExAC)
2802
East Asian Heterozygous Counts (ExAC)
1950
East Asian Homozygous Counts (ExAC)
426
East Asian Allele Frequency (ExAC)
0.32725998598458306
Chromosome Counts in All Race (ExAC)
120568
Allele Counts in All Race (ExAC)
39657
Heterozygous Counts in All Race (ExAC)
26569
Homozygous Counts in All Race (ExAC)
6544
Allele Frequency in All Race (ExAC)
0.328918120894433
Variant (CIViC) (CIViC Variant)
F212V
Transcript 1 (CIViC Variant)
ENST00000367969.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/457
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