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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002106921	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Uncertain significance (Sep 28, 2020)	de novo	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002106921

Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics

no assertion criteria provided

Uncertain significance
(Sep 28, 2020)

de novo

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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