NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) AND not specified

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Apr 27, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000119975.7

Allele description [Variation Report for NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del)]

NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del)

Gene:

ALK:ALK receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2p23.2

Genomic location:

Preferred name:

NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del)

HGVS:

NC_000002.12:g.29193783TCC[2]
NG_009445.1:g.732777GAG[2]
NM_001353765.2:c.1093GAG[2]
NM_004304.5:c.4297GAG[2]MANE SELECT
NP_001340694.1:p.Glu367del
NP_004295.2:p.Glu1435del
LRG_488:g.732777GAG[2]
NC_000002.11:g.29416648_29416650del
NC_000002.11:g.29416649TCC[2]
NM_004304.4:c.4303_4305del
NM_004304.4:c.4303_4305delGAG

Protein change:

E1435del

Links:

dbSNP: rs138827116

NCBI 1000 Genomes Browser:

rs138827116

Molecular consequence:

NM_001353765.2:c.1093GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004304.5:c.4297GAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Homo sapiens solute carrier family 38 member 9 (SLC38A9), transcript ...
PREDICTED: Homo sapiens solute carrier family 38 member 9 (SLC38A9), transcript variant X27, mRNA
gi|2217354628|ref|XM_047416793.1|

Nucleotide
PREDICTED: Homo sapiens solute carrier family 38 member 9 (SLC38A9), transcript ...
PREDICTED: Homo sapiens solute carrier family 38 member 9 (SLC38A9), transcript variant X16, mRNA
gi|2462600776|ref|XM_054351741.1|

Nucleotide
neutral amino acid transporter 9 isoform X3 [Homo sapiens]
neutral amino acid transporter 9 isoform X3 [Homo sapiens]
gi|2462600765|ref|XP_054207710.1|

Protein
PREDICTED: Homo sapiens solute carrier family 38 member 9 (SLC38A9), transcript ...
PREDICTED: Homo sapiens solute carrier family 38 member 9 (SLC38A9), transcript variant X21, misc_RNA
gi|2462600786|ref|XR_008487083.1|

Nucleotide
neutral amino acid transporter 9 isoform X9 [Homo sapiens]
neutral amino acid transporter 9 isoform X9 [Homo sapiens]
gi|1034643714|ref|XP_016864571.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000084105	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]
SCV000333812	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Sep 1, 2015)	germline	clinical testing	Citation Link,
SCV003929356	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Apr 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000084105

ITMI

no classification provided

not provided

germline

reference population

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

SCV000333812

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Sep 1, 2015)

germline

clinical testing

Citation Link,

SCV003929356

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Apr 27, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

Details of each submission

From ITMI, SCV000084105.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	not provided	not provided	not provided	reference population	PubMed (1)
2	African_European	not provided	not provided	not provided	reference population	PubMed (1)
3	Central_Asian	not provided	not provided	not provided	reference population	PubMed (1)
4	East_Asian	not provided	not provided	not provided	reference population	PubMed (1)
5	European	not provided	not provided	not provided	reference population	PubMed (1)
6	Hispanic	not provided	not provided	not provided	reference population	PubMed (1)
7	Whole_cohort	not provided	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0.0116	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.0007	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000333812.4

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

#	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		1	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003929356.1

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

#	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: Sep 29, 2024

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