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NM_001136472.2(LITAF):c.251C>T (p.Pro84Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 10, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000236418.1

Allele description [Variation Report for NM_001136472.2(LITAF):c.251C>T (p.Pro84Leu)]

NM_001136472.2(LITAF):c.251C>T (p.Pro84Leu)

Gene:
LITAF:lipopolysaccharide induced TNF factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.13
Genomic location:
Preferred name:
NM_001136472.2(LITAF):c.251C>T (p.Pro84Leu)
HGVS:
  • NC_000016.10:g.11553659G>A
  • NG_009008.1:g.38292C>T
  • NM_001136472.2:c.251C>TMANE SELECT
  • NM_001136473.1:c.251C>T
  • NM_004862.4:c.251C>T
  • NP_001129944.1:p.Pro84Leu
  • NP_001129945.1:p.Pro84Leu
  • NP_004853.2:p.Pro84Leu
  • NP_004853.2:p.Pro84Leu
  • LRG_253t1:c.251C>T
  • LRG_253:g.38292C>T
  • LRG_253p1:p.Pro84Leu
  • NC_000016.9:g.11647515G>A
  • NM_004862.3:c.251C>T
  • NR_024320.2:n.385C>T
Protein change:
P84L
Links:
dbSNP: rs761746674
NCBI 1000 Genomes Browser:
rs761746674
Molecular consequence:
  • NM_001136472.2:c.251C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136473.1:c.251C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004862.4:c.251C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024320.2:n.385C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000292925GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 10, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000292925.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The P84L variant has not been published as pathogenic, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P84L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the P84L variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic or a rare benign variant.

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

Last Updated: Sep 29, 2024