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NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) AND Noonan syndrome

Germline classification:
Likely benign (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:
RCV001261051.3

Allele description [Variation Report for NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)]

NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)

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.257A>C (p.Asn86Thr)
Other names:
p.N86T:AAC>ACC; NM_005343.3(HRAS):c.257A>C; p.Asn86Thr
HGVS:
  • NC_000011.10:g.533799T>G
  • NG_007666.1:g.6752A>C
  • NM_001130442.3:c.257A>C
  • NM_001318054.2:c.-63A>C
  • NM_005343.4:c.257A>CMANE SELECT
  • NM_176795.5:c.257A>C
  • NP_001123914.1:p.Asn86Thr
  • NP_005334.1:p.Asn86Thr
  • NP_789765.1:p.Asn86Thr
  • LRG_506t1:c.257A>C
  • LRG_506:g.6752A>C
  • LRG_506p1:p.Asn86Thr
  • NC_000011.9:g.533799T>G
  • NM_005343.2:c.257A>C
  • NM_005343.3:c.257A>C
Protein change:
N86T
Links:
dbSNP: rs138272051
NCBI 1000 Genomes Browser:
rs138272051
Molecular consequence:
  • NM_001318054.2:c.-63A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130442.3:c.257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005343.4:c.257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_176795.5:c.257A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Noonan syndrome (NS)
Synonyms:
Noonan's syndrome; Pseudo-Turner syndrome
Identifiers:
MONDO: MONDO:0018997; MeSH: D009634; MedGen: C0028326; OMIM: PS163950

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001438453Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Likely benignmaternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalnonot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001438453.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalnonot providednot providednot providednot providednot provided1not provided

Last Updated: Oct 20, 2024