U.S. flag

An official website of the United States government

NM_004304.5(ALK):c.3520T>G (p.Phe1174Val) AND Neuroblastoma 3

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 7, 2015
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:
RCV000055894.2

Allele description

NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)

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.3520T>G (p.Phe1174Val)
HGVS:
  • NC_000002.12:g.29220831A>C
  • NG_009445.1:g.705736T>G
  • NM_001353765.1:c.316T>G
  • NM_004304.5:c.3520T>GMANE SELECT
  • NP_001340694.1:p.Phe106Val
  • NP_004295.2:p.Phe1174Val
  • LRG_488t1:c.3520T>G
  • LRG_488:g.705736T>G
  • NC_000002.11:g.29443697A>C
  • NM_004304.3:c.3520T>G
  • NM_004304.4:c.3520T>G
  • Q9UM73:p.Phe1174Val
Protein change:
F106V
Links:
UniProtKB: Q9UM73#VAR_063858; dbSNP: rs281864719
NCBI 1000 Genomes Browser:
rs281864719
Molecular consequence:
  • NM_001353765.1:c.316T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004304.5:c.3520T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Neuroblastoma 3 (NBLST3)
Synonyms:
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3; ALK-Related Neuroblastoma Susceptibility
Identifiers:
MONDO: MONDO:0013083; MedGen: C2751681; Orphanet: 635; OMIM: 613014

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000086902GeneReviews
no assertion criteria provided
pathologic
(Sep 27, 2012) 		not providedcuration

SCV000256814Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
no assertion criteria provided
Pathogenic
(Oct 7, 2015) 		somaticclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration
not providedsomaticyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneReviews, SCV000086902.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000256814.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 13, 2021