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NM_004304.5(ALK):c.3476A>T (p.Gln1159Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 27, 2022
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:
RCV002451458.2

Allele description [Variation Report for NM_004304.5(ALK):c.3476A>T (p.Gln1159Leu)]

NM_004304.5(ALK):c.3476A>T (p.Gln1159Leu)

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.3476A>T (p.Gln1159Leu)
HGVS:
  • NC_000002.12:g.29222383T>A
  • NG_009445.1:g.704184A>T
  • NM_001353765.2:c.272A>T
  • NM_004304.5:c.3476A>TMANE SELECT
  • NP_001340694.1:p.Gln91Leu
  • NP_004295.2:p.Gln1159Leu
  • LRG_488:g.704184A>T
  • NC_000002.11:g.29445249T>A
  • NM_004304.4:c.3476A>T
Protein change:
Q1159L
Links:
dbSNP: rs1270501196
NCBI 1000 Genomes Browser:
rs1270501196
Molecular consequence:
  • NM_001353765.2:c.272A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004304.5:c.3476A>T - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002613956Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 27, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Profiling Oncogenic Germline Mutations in Unselected Chinese Lung Cancer Patients.

Yang J, Li H, Li B, Li W, Guo Q, Hu L, Song Z, Zhou B.

Front Oncol. 2021;11:647598. doi: 10.3389/fonc.2021.647598.

PubMed [citation]
PMID:
33898318
PMCID:
PMC8058453

Details of each submission

From Ambry Genetics, SCV002613956.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.Q1159L variant (also known as c.3476A>T), located in coding exon 22 of the ALK gene, results from an A to T substitution at nucleotide position 3476. The glutamine at codon 1159 is replaced by leucine, an amino acid with dissimilar properties. This alteration was identified in the germline of 7/36,813 unselected Chinese individuals diagnosed with lung cancer that underwent paired somatic and germline testing (Yang J et al. Front Oncol, 2021 Apr;11:647598). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Sep 29, 2024