chr15:48777571:C>T Detail (hg19) (FBN1)

Information

Genome

Assembly Position
hg19 chr15:48,777,571-48,777,571
hg38 chr15:48,485,374-48,485,374 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000138.4:c.3712G>A NP_000129.3:p.Asp1238Asn
Ensemble ENST00000316623.10:c.3712G>A ENST00000316623.10:p.Asp1238Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 134797 OMIM
HGNC 3603 HGNC
Ensembl ENSG00000166147 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52869892 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-09-20 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2018-11-20 criteria provided, multiple submitters, no conflicts Marfan syndrome germline unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter acromicric dysplasia,stiff skin syndrome,MASS syndrome,Weill-Marchesani syndrome 2, dominant,Progeroid and marfanoid aspect-lipodystrophy syndrome,Marfan syndrome,Ectopia lentis 1, isolated, autosomal dominant,geleophysic dysplasia 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter acromicric dysplasia,stiff skin syndrome,MASS syndrome,Weill-Marchesani syndrome 2, dominant,Progeroid and marfanoid aspect-lipodystrophy syndrome,Marfan syndrome,Ectopia lentis 1, isolated, autosomal dominant,geleophysic dysplasia 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter acromicric dysplasia,stiff skin syndrome,MASS syndrome,Weill-Marchesani syndrome 2, dominant,Progeroid and marfanoid aspect-lipodystrophy syndrome,Marfan syndrome,Ectopia lentis 1, isolated, autosomal dominant,geleophysic dysplasia 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter acromicric dysplasia,stiff skin syndrome,MASS syndrome,Weill-Marchesani syndrome 2, dominant,Progeroid and marfanoid aspect-lipodystrophy syndrome,Marfan syndrome,Ectopia lentis 1, isolated, autosomal dominant,geleophysic dysplasia 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter acromicric dysplasia,stiff skin syndrome,MASS syndrome,Weill-Marchesani syndrome 2, dominant,Progeroid and marfanoid aspect-lipodystrophy syndrome,Marfan syndrome,Ectopia lentis 1, isolated, autosomal dominant,geleophysic dysplasia 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter acromicric dysplasia,stiff skin syndrome,MASS syndrome,Weill-Marchesani syndrome 2, dominant,Progeroid and marfanoid aspect-lipodystrophy syndrome,Marfan syndrome,Ectopia lentis 1, isolated, autosomal dominant,geleophysic dysplasia 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter acromicric dysplasia,stiff skin syndrome,MASS syndrome,Weill-Marchesani syndrome 2, dominant,Progeroid and marfanoid aspect-lipodystrophy syndrome,Marfan syndrome,Ectopia lentis 1, isolated, autosomal dominant,geleophysic dysplasia 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter acromicric dysplasia,stiff skin syndrome,MASS syndrome,Weill-Marchesani syndrome 2, dominant,Progeroid and marfanoid aspect-lipodystrophy syndrome,Marfan syndrome,Ectopia lentis 1, isolated, autosomal dominant,geleophysic dysplasia 2 unknown Detail
Pathogenic 2023-12-28 criteria provided, single submitter Marfan syndrome,Familial thoracic aortic aneurysm and aortic dissection germline Detail
Pathogenic 2023-12-28 criteria provided, single submitter Marfan syndrome,Familial thoracic aortic aneurysm and aortic dissection germline Detail
Likely pathogenic 2023-11-01 criteria provided, multiple submitters, no conflicts Familial thoracic aortic aneurysm and aortic dissection germline Detail
Uncertain significance 2019-10-08 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND not provided ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND Marfan syndrome ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND multiple conditions ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND multiple conditions ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND multiple conditions ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND multiple conditions ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND multiple conditions ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND multiple conditions ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND multiple conditions ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND multiple conditions ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND multiple conditions ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND multiple conditions ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND Familial thoracic aortic aneurysm and aortic dissecti... ClinVar Detail
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) 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
rs794728208 dbSNP
Genome
hg19
Position
chr15:48,777,571-48,777,571
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs794728208
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser