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NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000709974.1

Allele description [Variation Report for NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)]

NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)

Gene:
GNB5:G protein subunit beta 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.2
Genomic location:
Preferred name:
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)
HGVS:
  • NC_000015.10:g.52153947G>A
  • NG_052868.1:g.42422C>T
  • NM_001379343.1:c.86C>T
  • NM_006578.4:c.242C>T
  • NM_016194.4:c.368C>TMANE SELECT
  • NP_001366272.1:p.Ser29Leu
  • NP_006569.1:p.Ser81Leu
  • NP_057278.2:p.Ser123Leu
  • NC_000015.9:g.52446144G>A
  • NM_006578.3:c.242C>T
  • NM_016194.3:c.368C>T
Protein change:
S123L; SER81LEU
Links:
OMIM: 604447.0006; dbSNP: rs761399728
NCBI 1000 Genomes Browser:
rs761399728
Molecular consequence:
  • NM_001379343.1:c.86C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006578.4:c.242C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016194.4:c.368C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Synonyms:
Intellectual developmental disorder with cardiac arrhythmia; LODDER-MERLA SYNDROME, TYPE 1, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CARDIAC ARRHYTHMIA
Identifiers:
MONDO: MONDO:0014953; MedGen: C5568877; OMIM: 617173
Name:
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (LDMLS2)
Synonyms:
LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT CARDIAC ARRHYTHMIA
Identifiers:
MONDO: MONDO:0014957; MedGen: C4310678; OMIM: 617182

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840338GenomeConnect, ClinGen
no classification provided
not providedmaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840338.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Dec 17, 2023