NM_001127671.2(LIFR):c.1290del (p.Val431fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001387860.1

Allele description [Variation Report for NM_001127671.2(LIFR):c.1290del (p.Val431fs)]

NM_001127671.2(LIFR):c.1290del (p.Val431fs)

Gene:
LIFR:LIF receptor subunit alpha [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5p13.1
Genomic location:
Preferred name:
NM_001127671.2(LIFR):c.1290del (p.Val431fs)
HGVS:
  • NC_000005.10:g.38505910del
  • NG_011817.1:g.94500del
  • NM_001127671.2:c.1290delMANE SELECT
  • NM_001364297.2:c.1290del
  • NM_001364298.2:c.1290del
  • NM_002310.6:c.1290del
  • NP_001121143.1:p.Val431fs
  • NP_001351226.1:p.Val431fs
  • NP_001351227.1:p.Val431fs
  • NP_002301.1:p.Val431fs
  • NC_000005.9:g.38506008del
  • NC_000005.9:g.38506012del
Protein change:
V431fs
Links:
Molecular consequence:
  • NM_001127671.2:c.1290del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001364297.2:c.1290del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001364298.2:c.1290del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002310.6:c.1290del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001588581Invitaecriteria provided, single submitter
Pathogenic
(Oct 20, 2020)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V.

Am J Hum Genet. 2004 Feb;74(2):298-305. Epub 2004 Jan 21.

PubMed [citation]
PMID:
14740318
PMCID:
PMC1181927

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001588581.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Val431Phefs*11) 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 not been reported in the literature in individuals with LIFR-related conditions. 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

Last Updated: May 14, 2021

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