chr2:39262409:G>A Detail (hg19) (SOS1)

Information

Genome

Assembly Position
hg19 chr2:39,262,409-39,262,409
hg38 chr2:39,035,268-39,035,268 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005633.3:c.1018C>T NP_005624.2:p.Pro340Ser
Ensemble ENST00000395038.6:c.1018C>T ENST00000395038.6:p.Pro340Ser
ENST00000402219.8:c.1018C>T ENST00000402219.8:p.Pro340Ser
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
Review star
Show details
Links
Type Database ID Link
Gene MIM 182530 OMIM
HGNC 11187 HGNC
Ensembl ENSG00000115904 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 2024-01-06 criteria provided, single submitter RASopathy germline Detail
Likely benign 2019-07-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2019-06-27 reviewed by expert panel Noonan syndrome and Noonan-related syndrome germline Detail
Uncertain significance 2017-04-28 criteria provided, single submitter Noonan syndrome 4 germline Detail
Benign 2017-04-28 criteria provided, single submitter Fibromatosis, gingival, 1 germline Detail
Likely benign 2020-12-04 criteria provided, single submitter germline Detail
Benign 2020-09-18 criteria provided, single submitter SOS1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 LEOPARD Syndrome Here we present a patient with severe, progressive neonatal HCM, elevated urinar... BeFree 22585553 Detail
<0.001 Cardiomyopathies Here we present a patient with severe, progressive neonatal HCM, elevated urinar... BeFree 22585553 Detail
0.003 LEOPARD Syndrome Here we present a patient with severe, progressive neonatal HCM, elevated urinar... BeFree 22585553 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) AND RASopathy ClinVar Detail
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) AND not provided ClinVar Detail
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) AND Noonan syndrome 4 ClinVar Detail
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) AND Fibromatosis, gingival, 1 ClinVar Detail
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) AND Cardiovascular phenotype ClinVar Detail
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) AND SOS1-related disorder ClinVar Detail
Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine meta... DisGeNET Detail
Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine meta... DisGeNET Detail
Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine meta... 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
rs190222208 dbSNP
Genome
hg19
Position
chr2:39,262,409-39,262,409
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8520
East Asian Allele Counts (ExAC)
5
East Asian Heterozygous Counts (ExAC)
5
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
5.868544600938967E-4
Chromosome Counts in All Race (ExAC)
119120
Allele Counts in All Race (ExAC)
14
Heterozygous Counts in All Race (ExAC)
14
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1752854264607119E-4
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