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NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly) AND Jeune thoracic dystrophy

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jun 1, 2017
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:
RCV000515914.4

Allele description [Variation Report for NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly)]

NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly)

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.8A>G (p.Asp3Gly)
HGVS:
  • NC_000014.9:g.75985794A>G
  • NG_011715.1:g.956T>C
  • NG_031957.1:g.5042A>G
  • NM_001102564.3:c.8A>GMANE SELECT
  • NM_001255995.3:c.8A>G
  • NM_052873.3:c.8A>G
  • NP_001096034.1:p.Asp3Gly
  • NP_001242924.1:p.Asp3Gly
  • NP_443105.2:p.Asp3Gly
  • LRG_399:g.956T>C
  • NC_000014.8:g.76452137A>G
  • NM_052873.2:c.8A>G
  • NR_045664.2:n.32A>G
  • NR_045665.2:n.32A>G
Protein change:
D3G
Links:
dbSNP: rs144776609
NCBI 1000 Genomes Browser:
rs144776609
Molecular consequence:
  • NM_001102564.3:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001255995.3:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052873.3:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045664.2:n.32A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_045665.2:n.32A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Jeune thoracic dystrophy (ATD1)
Synonyms:
Jeune syndrome; Infantile thoracic dystrophy; Thoracic pelvic phalangeal dystrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018770; MedGen: C0265275; OMIM: PS208500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000612129Dan Cohn Lab, University Of California Los Angeles
no assertion criteria provided
Uncertain significance
(Jun 1, 2017) 		unknownresearch

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

SCV001479707University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics., Lachman RS, Krakow D, Cohn DH.

Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.

PubMed [citation]
PMID:
29068549
PMCID:
PMC6198324

Details of each submission

From Dan Cohn Lab, University Of California Los Angeles, SCV000612129.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479707.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2024