NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) AND Noonan syndrome 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003450635.1

Allele description

NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)

Genes:

HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)

Other names:

p.G12S:GGC>AGC; NM_005343.3(HRAS):c.34G>A

HGVS:

NC_000011.10:g.534289C>T
NG_007666.1:g.6262G>A
NM_001130442.3:c.34G>A
NM_001318054.2:c.-286G>A
NM_005343.4:c.34G>AMANE SELECT
NM_176795.5:c.34G>A
NP_001123914.1:p.Gly12Ser
NP_001123914.1:p.Gly12Ser
NP_005334.1:p.Gly12Ser
NP_005334.1:p.Gly12Ser
NP_789765.1:p.Gly12Ser
NP_789765.1:p.Gly12Ser
LRG_506t1:c.34G>A
LRG_506:g.6262G>A
LRG_506p1:p.Gly12Ser
NC_000011.9:g.534289C>T
NM_001130442.1:c.34G>A
NM_001130442.2:c.34G>A
NM_005343.2:c.34G>A
NM_005343.3:c.34G>A
NM_176795.3:c.34G>A
NM_176795.4:c.34G>A
P01112:p.Gly12Ser
c.34G>A

Protein change:

G12S; GLY12SER

Links:

UniProtKB: P01112#VAR_006837; OMIM: 190020.0003; dbSNP: rs104894229

NCBI 1000 Genomes Browser:

rs104894229

Molecular consequence:

NM_001318054.2:c.-286G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001130442.3:c.34G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005343.4:c.34G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_176795.5:c.34G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Noonan syndrome 1 (NS1)
Synonyms:: Turner Syndrome, Male; Turner phenotype with normal karyotype; Female pseudo-Turner syndrome
Identifiers:: MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004190105	Molecular Genetics, Centre for Human Genetics	no assertion criteria provided	Pathogenic	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004190105

Molecular Genetics, Centre for Human Genetics

no assertion criteria provided

Pathogenic

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	6	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Molecular Genetics, Centre for Human Genetics, SCV004190105.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		6	not provided	not provided	not provided

Last Updated: Aug 18, 2024

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