chr3:10074537:C>T Detail (hg38) (FANCD2, LOC107303338)

Information

Genome

Assembly Position
hg19 chr3:10,116,221-10,116,221 View the variant detail on this assembly version.
hg38 chr3:10,074,537-10,074,537

HGVS

Type Transcript Protein
RefSeq NM_033084.4:c.2723C>T NP_149075.2:p.Thr908Ile
NM_001319984.1:c.2723C>T NP_001306913.1:p.Thr908Ile
Ensemble ENST00000287647.7:c.2723C>T ENST00000287647.7:p.Thr908Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.005
ToMMo:0.005
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.009

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 613984 OMIM
HGNC 3585 HGNC
Ensembl ENSG00000144554 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11437792 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts Fanconi anemia germline Detail
Likely benign 2023-03-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001018115.3(FANCD2):c.2723C>T (p.Thr908Ile) AND Fanconi anemia ClinVar Detail
NM_001018115.3(FANCD2):c.2723C>T (p.Thr908Ile) AND not provided 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
rs188375397 dbSNP
Genome
hg38
Position
chr3:10,074,537-10,074,537
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
80.69
Standard deviation of sample read depth (HGVD)
35.83
Number of reference allele (HGVD)
2408
Number of alternative allele (HGVD)
12
Allele Frequency (HGVD)
0.0049586776859504135
Gene Symbol (HGVD)
FANCD2
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))
rs188375397
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0052
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
87
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
81
East Asian Heterozygous Counts (ExAC)
77
East Asian Homozygous Counts (ExAC)
2
East Asian Allele Frequency (ExAC)
0.009385863267670916
Chromosome Counts in All Race (ExAC)
120824
Allele Counts in All Race (ExAC)
97
Heterozygous Counts in All Race (ExAC)
93
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
8.028206316625836E-4
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