U.S. flag

An official website of the United States government

NM_004304.5(ALK):c.4357G>A (p.Ala1453Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 5, 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:
RCV002329280.1

Allele description [Variation Report for NM_004304.5(ALK):c.4357G>A (p.Ala1453Thr)]

NM_004304.5(ALK):c.4357G>A (p.Ala1453Thr)

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.4357G>A (p.Ala1453Thr)
HGVS:
  • NC_000002.12:g.29193730C>T
  • NG_009445.1:g.732837G>A
  • NM_001353765.2:c.1153G>A
  • NM_004304.5:c.4357G>AMANE SELECT
  • NP_001340694.1:p.Ala385Thr
  • NP_004295.2:p.Ala1453Thr
  • LRG_488:g.732837G>A
  • NC_000002.11:g.29416596C>T
  • NM_004304.4:c.4357G>A
Protein change:
A1453T
Links:
dbSNP: rs752317227
NCBI 1000 Genomes Browser:
rs752317227
Molecular consequence:
  • NM_001353765.2:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004304.5:c.4357G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

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
SCV002627509Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(May 5, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002627509.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.A1453T variant (also known as c.4357G>A), located in coding exon 29 of the ALK gene, results from a G to A substitution at nucleotide position 4357. The alanine at codon 1453 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024