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NM_033343.4(LHX4):c.359G>A (p.Cys120Tyr) AND Pituitary hormone deficiency, combined, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 2016
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:
RCV000584396.1

Allele description [Variation Report for NM_033343.4(LHX4):c.359G>A (p.Cys120Tyr)]

NM_033343.4(LHX4):c.359G>A (p.Cys120Tyr)

Gene:
LHX4:LIM homeobox 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.2
Genomic location:
Preferred name:
NM_033343.4(LHX4):c.359G>A (p.Cys120Tyr)
HGVS:
  • NC_000001.11:g.180266502G>A
  • NG_008081.1:g.41196G>A
  • NM_033343.4:c.359G>AMANE SELECT
  • NP_203129.1:p.Cys120Tyr
  • NC_000001.10:g.180235637G>A
  • NM_033343.3:c.359G>A
Protein change:
C120Y
Links:
dbSNP: rs1553282666
NCBI 1000 Genomes Browser:
rs1553282666
Molecular consequence:
  • NM_033343.4:c.359G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pituitary hormone deficiency, combined, 1 (CPHD1)
Synonyms:
Pituitary hormone deficiency, combined or isolated, 1
Identifiers:
MONDO: MONDO:0024464; MedGen: C2751608; OMIM: 613038

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000692126Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Uncertain significance
(Jul 27, 2016) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692126.1

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

Last Updated: Apr 23, 2022