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NM_001102564.3(IFT43):c.19T>A (p.Leu7Met) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2022
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:
RCV003049142.3

Allele description [Variation Report for NM_001102564.3(IFT43):c.19T>A (p.Leu7Met)]

NM_001102564.3(IFT43):c.19T>A (p.Leu7Met)

Gene:
IFT43:intraflagellar transport 43 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_001102564.3(IFT43):c.19T>A (p.Leu7Met)
HGVS:
  • NC_000014.9:g.75985805T>A
  • NG_011715.1:g.945A>T
  • NG_031957.1:g.5053T>A
  • NG_129527.1:g.490T>A
  • NM_001102564.3:c.19T>AMANE SELECT
  • NM_001255995.3:c.19T>A
  • NM_052873.3:c.19T>A
  • NP_001096034.1:p.Leu7Met
  • NP_001242924.1:p.Leu7Met
  • NP_443105.2:p.Leu7Met
  • LRG_399:g.945A>T
  • NC_000014.8:g.76452148T>A
  • NR_045664.2:n.43T>A
  • NR_045665.2:n.43T>A
Protein change:
L7M
Molecular consequence:
  • NM_001102564.3:c.19T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001255995.3:c.19T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052873.3:c.19T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045664.2:n.43T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_045665.2:n.43T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003338407Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 11, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003338407.2

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

Description

This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 7 of the IFT43 protein (p.Leu7Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IFT43-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024