NM_001127671.2(LIFR):c.756dup (p.Lys253Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 23, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001091485.4

Allele description [Variation Report for NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)]

NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)

Gene:
LIFR:LIF receptor subunit alpha [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5p13.1
Genomic location:
Preferred name:
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)
HGVS:
  • NC_000005.10:g.38510699dup
  • NG_011817.1:g.89707dup
  • NM_001127671.2:c.756dupMANE SELECT
  • NM_001364297.1:c.756dup
  • NM_001364298.1:c.756dup
  • NM_002310.6:c.756dup
  • NP_001121143.1:p.Lys253Ter
  • NP_001351226.1:p.Lys253Ter
  • NP_001351227.1:p.Lys253Ter
  • NP_002301.1:p.Lys253Ter
  • NC_000005.9:g.38510800_38510801insA
  • NC_000005.9:g.38510801dup
  • NM_002310.5:c.756dup
Protein change:
K253*
Links:
Molecular consequence:
  • NM_001127671.2:c.756dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001364297.1:c.756dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001364298.1:c.756dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002310.6:c.756dup - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001247559CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Nov 1, 2019)
germlineclinical testing

Citation Link,

SCV001582994Invitaecriteria provided, single submitter
Pathogenic
(Jun 23, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV001832361Blueprint Geneticscriteria provided, single submitter
Pathogenic
(Nov 30, 2019)
germlineclinical testing

Citation Link

Description

Patient analyzed with Comprehensive Skeletal Dysplasias and Disorders Panel

SCV001832361

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement.

Buonuomo PS, Macchiaiolo M, Cambiaso P, Rana I, Digilio MC, Bartuli A.

Clin Dysmorphol. 2014 Apr;23(2):45-46. doi: 10.1097/MCD.0000000000000023. No abstract available.

PubMed [citation]
PMID:
24477277

Stüve-Wiedemann syndrome in a neonate.

Sarafidis K, Piretzi K, Agakidou E, Kohlhase J, Zafeiriou D.

Pediatr Int. 2015 Apr;57(2):302-4. doi: 10.1111/ped.12431.

PubMed [citation]
PMID:
25868946
See all PubMed Citations (4)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247559.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Invitae, SCV001582994.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Lys253*) in the LIFR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Stuve-Wiedemann syndrome (PMID: 14740318, 24477277, 25868946). Loss-of-function variants in LIFR are known to be pathogenic (PMID: 14740318). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Blueprint Genetics, SCV001832361.1

#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: Oct 6, 2021

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