chr2:39012319:T>A Detail (hg38) (SOS1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr2:39,239,460-39,239,460 View the variant detail on this assembly version.
hg38	chr2:39,012,319-39,012,319

HGVS

SOS1

Type	Transcript	Protein
RefSeq	NM_005633.3:c.2197A>T	NP_005624.2:p.Ile733Phe
Ensemble	ENST00000395038.6:c.2197A>T	ENST00000395038.6:p.Ile733Phe
	ENST00000402219.8:c.2197A>T	ENST00000402219.8:p.Ile733Phe
	ENST00000685279.1:c.964A>T	ENST00000685279.1:p.Ile322Phe
	ENST00000691229.1:c.2086A>T	ENST00000691229.1:p.Ile696Phe
	ENST00000692089.1:c.2086A>T	ENST00000692089.1:p.Ile696Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

SOS1

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
Pathogenic	2019-12-04	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2017-04-17	criteria provided, single submitter	Noonan syndrome 3	germline	Detail
Pathogenic	2022-10-04	criteria provided, single submitter	RASopathy	germline	Detail
Pathogenic Likely pathogenic	2022-03-22	criteria provided, multiple submitters, no conflicts	Noonan syndrome 4	germline	Detail
Pathogenic	2023-03-08	criteria provided, single submitter	SOS1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) AND not provided	ClinVar	Detail
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) AND Noonan syndrome 3	ClinVar	Detail
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) AND RASopathy	ClinVar	Detail
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) AND Noonan syndrome 4	ClinVar	Detail
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) AND SOS1-related disorder	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: rs574088829 dbSNP
Genome: hg38
Position: chr2:39,012,319-39,012,319
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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