chr17:17131377:C>T Detail (hg19) (FLCN)

Information

Genome

Assembly Position
hg19 chr17:17,131,377-17,131,377
hg38 chr17:17,228,063-17,228,063 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_144606.5:c.75G>A NP_653207.1:p.Leu25=
NM_144997.5:c.75G>A NP_659434.2:p.Leu25=
Ensemble ENST00000389169.9:c.75G>A ENST00000389169.9:p.Leu25=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 607273 OMIM
HGNC 27310 HGNC
Ensembl ENSG00000154803 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2022-03-11 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign Likely benign 2022-11-17 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Benign 2024-01-30 criteria provided, multiple submitters, no conflicts Birt-Hogg-Dube syndrome germline Detail
Likely benign 2018-01-12 criteria provided, single submitter Familial spontaneous pneumothorax germline Detail
Benign 2022-02-25 criteria provided, single submitter Birt-Hogg-Dube syndrome,Familial spontaneous pneumothorax,colorectal cancer,nonpapillary renal cell carcinoma,Potocki-Lupski syndrome unknown Detail
Benign 2022-02-25 criteria provided, single submitter Birt-Hogg-Dube syndrome,Familial spontaneous pneumothorax,colorectal cancer,nonpapillary renal cell carcinoma,Potocki-Lupski syndrome unknown Detail
Benign 2022-02-25 criteria provided, single submitter Birt-Hogg-Dube syndrome,Familial spontaneous pneumothorax,colorectal cancer,nonpapillary renal cell carcinoma,Potocki-Lupski syndrome unknown Detail
Benign 2022-02-25 criteria provided, single submitter Birt-Hogg-Dube syndrome,Familial spontaneous pneumothorax,colorectal cancer,nonpapillary renal cell carcinoma,Potocki-Lupski syndrome unknown Detail
Benign 2022-02-25 criteria provided, single submitter Birt-Hogg-Dube syndrome,Familial spontaneous pneumothorax,colorectal cancer,nonpapillary renal cell carcinoma,Potocki-Lupski syndrome unknown Detail
Likely benign 2024-02-06 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND not provided ClinVar Detail
NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND Birt-Hogg-Dube syndrome ClinVar Detail
NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND Familial spontaneous pneumothorax ClinVar Detail
NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND multiple conditions ClinVar Detail
NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND multiple conditions ClinVar Detail
NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND multiple conditions ClinVar Detail
NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND multiple conditions ClinVar Detail
NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND multiple conditions ClinVar Detail
NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND not specified 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
rs200350612 dbSNP
Genome
hg19
Position
chr17:17,131,377-17,131,377
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8608
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
119900
Allele Counts in All Race (ExAC)
68
Heterozygous Counts in All Race (ExAC)
68
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.671392827356131E-4
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