chr14:45628313:G>A Detail (hg19) (FANCM)

Information

Genome

Assembly Position
hg19 chr14:45,628,313-45,628,313
hg38 chr14:45,159,110-45,159,110 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020937.3:c.1411G>A NP_065988.1:p.Glu471Lys
NM_001308134.1:c.1411G>A NP_001295063.1:p.Glu471Lys
NM_001308133.1:c.1333G>A NP_001295062.1:p.Glu445Lys
Summary

MGeND

Clinical significance Uncertain significance not provided
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 609644 OMIM
HGNC 23168 HGNC
Ensembl ENSG00000187790 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv50626299 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided 2019/07/06 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Uncertain significance colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-17 criteria provided, single submitter Fanconi anemia germline Detail
Uncertain significance 2023-07-14 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2021-12-26 criteria provided, single submitter spermatogenic failure 28,Premature ovarian failure 15 unknown Detail
Uncertain significance 2021-12-26 criteria provided, single submitter spermatogenic failure 28,Premature ovarian failure 15 unknown Detail
Uncertain significance 2023-06-29 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) AND Fanconi anemia ClinVar Detail
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) AND not provided ClinVar Detail
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) AND multiple conditions ClinVar Detail
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) AND multiple conditions ClinVar Detail
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) AND Inborn genetic diseases 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
rs543029493 dbSNP
Genome
hg19
Position
chr14:45,628,313-45,628,313
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1206
Mean of sample read depth (HGVD)
43.14
Standard deviation of sample read depth (HGVD)
20.31
Number of reference allele (HGVD)
2411
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1459369817578774E-4
Gene Symbol (HGVD)
FANCM
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))
rs543029493
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0011
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
18
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
6032
East Asian Allele Counts (ExAC)
9
East Asian Heterozygous Counts (ExAC)
9
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0014920424403183023
Chromosome Counts in All Race (ExAC)
91678
Allele Counts in All Race (ExAC)
10
Heterozygous Counts in All Race (ExAC)
10
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.0907742315495538E-4
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