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NM_004304.5(ALK):c.3959G>A (p.Trp1320Ter) AND Pseudo-fractures

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 28, 2020
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:
RCV001849814.1

Allele description [Variation Report for NM_004304.5(ALK):c.3959G>A (p.Trp1320Ter)]

NM_004304.5(ALK):c.3959G>A (p.Trp1320Ter)

Gene:
ALK:ALK receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.2
Genomic location:
Preferred name:
NM_004304.5(ALK):c.3959G>A (p.Trp1320Ter)
HGVS:
  • NC_000002.12:g.29197656C>T
  • NG_009445.1:g.728911G>A
  • NM_001353765.2:c.755G>A
  • NM_004304.5:c.3959G>AMANE SELECT
  • NP_001340694.1:p.Trp252Ter
  • NP_004295.2:p.Trp1320Ter
  • LRG_488:g.728911G>A
  • NC_000002.11:g.29420522C>T
Protein change:
W1320*
Links:
dbSNP: rs2148143597
NCBI 1000 Genomes Browser:
rs2148143597
Molecular consequence:
  • NM_001353765.2:c.755G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004304.5:c.3959G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Pseudo-fractures
Identifiers:
MedGen: C4021028; Human Phenotype Ontology: HP:0100036

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106921Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Uncertain significance
(Sep 28, 2020) 		de novoliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, et al.

Nat Genet. 2020 Oct;52(10):1046-1056. doi: 10.1038/s41588-020-0695-1. Epub 2020 Sep 28. Erratum in: Nat Genet. 2021 Mar;53(3):412. doi: 10.1038/s41588-021-00780-8.

PubMed [citation]
PMID:
32989326
PMCID:
PMC9148538

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106921.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024