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NM_004304.5(ALK):c.3562C>T (p.Gln1188Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 2021
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:
RCV002339794.2

Allele description [Variation Report for NM_004304.5(ALK):c.3562C>T (p.Gln1188Ter)]

NM_004304.5(ALK):c.3562C>T (p.Gln1188Ter)

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.3562C>T (p.Gln1188Ter)
HGVS:
  • NC_000002.12:g.29220789G>A
  • NG_009445.1:g.705778C>T
  • NM_001353765.2:c.358C>T
  • NM_004304.5:c.3562C>TMANE SELECT
  • NP_001340694.1:p.Gln120Ter
  • NP_004295.2:p.Gln1188Ter
  • NP_004295.2:p.Gln1188Ter
  • LRG_488t1:c.3562C>T
  • LRG_488:g.705778C>T
  • LRG_488p1:p.Gln1188Ter
  • NC_000002.11:g.29443655G>A
  • NM_004304.3:c.3562C>T
  • NM_004304.4:c.3562C>T
Protein change:
Q1188*
Molecular consequence:
  • NM_001353765.2:c.358C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004304.5:c.3562C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002618916Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 29, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002618916.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.Q1188* variant (also known as c.3562C>T), located in coding exon 23 of the ALK gene, results from a C to T substitution at nucleotide position 3562. This changes the amino acid from a glutamine to a stop codon within coding exon 23. This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of ALK has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024