U.S. flag

An official website of the United States government

NM_005343.4(HRAS):c.451-4C>T 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:
RCV000824933.1

Allele description [Variation Report for NM_005343.4(HRAS):c.451-4C>T]

NM_005343.4(HRAS):c.451-4C>T

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.451-4C>T
HGVS:
  • NC_000011.10:g.532759G>A
  • NG_007666.1:g.7792C>T
  • NM_001130442.3:c.451-4C>T
  • NM_001318054.2:c.214-4C>T
  • NM_005343.4:c.451-4C>TMANE SELECT
  • NM_176795.5:c.*20-4C>T
  • LRG_506t1:c.451-4C>T
  • LRG_506:g.7792C>T
  • NC_000011.9:g.532759G>A
  • NM_005343.2:c.451-4C>T
  • NM_176795.3:c.*20-4C>T
Links:
dbSNP: rs1589789708
NCBI 1000 Genomes Browser:
rs1589789708
Molecular consequence:
  • NM_001130442.3:c.451-4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318054.2:c.214-4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005343.4:c.451-4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_176795.5:c.*20-4C>T - intron variant - [Sequence Ontology: SO:0001627]
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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000965967Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Likely benignmaternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV000965967.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024