NM_004304.5(ALK):c.3541C>T (p.Arg1181Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 16, 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:: RCV001020559.4

Allele description [Variation Report for NM_004304.5(ALK):c.3541C>T (p.Arg1181Cys)]

NM_004304.5(ALK):c.3541C>T (p.Arg1181Cys)

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.3541C>T (p.Arg1181Cys)

HGVS:

NC_000002.12:g.29220810G>A
NG_009445.1:g.705757C>T
NM_001353765.2:c.337C>T
NM_004304.5:c.3541C>TMANE SELECT
NP_001340694.1:p.Arg113Cys
NP_004295.2:p.Arg1181Cys
LRG_488:g.705757C>T
NC_000002.11:g.29443676G>A
NM_004304.4:c.3541C>T

Protein change:

R113C

Links:

dbSNP: rs56315533

NCBI 1000 Genomes Browser:

rs56315533

Molecular consequence:

NM_001353765.2:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004304.5:c.3541C>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001182055	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 16, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001182055

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 16, 2022)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Patient-Derived Xenograft Model of Parameningeal Embryonal Rhabdomyosarcoma for Preclinical Studies.

Hooper JE, Cantor EL, Ehlen MS, Banerjee A, Malempati S, Stenzel P, Woltjer RL, Gandour-Edwards R, Goodwin NC, Yang Y, Kaur P, Bult CJ, Airhart SD, Keller C.

Sarcoma. 2015;2015:826124. doi: 10.1155/2015/826124. Epub 2015 Nov 30.

PubMed [citation]

PMID:: 26696773
PMCID:: PMC4677247

Details of each submission

From Ambry Genetics, SCV001182055.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.R1181C variant (also known as c.3541C>T), located in coding exon 23 of the ALK gene, results from a C to T substitution at nucleotide position 3541. The arginine at codon 1181 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been reported in an individual diagnosed with an embryonal rhabdomyosarcoma (Hooper JE et al. Sarcoma, 2015 Nov;2015:826124). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine