NM_006343.3(MERTK):c.2189+1G>T AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 10, 2016
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:: RCV000624145.2

Allele description [Variation Report for NM_006343.3(MERTK):c.2189+1G>T]

NM_006343.3(MERTK):c.2189+1G>T

Gene:

MERTK:MER proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q13

Genomic location:

Preferred name:

NM_006343.3(MERTK):c.2189+1G>T

Other names:

NP_006334.2:p.?

HGVS:

NC_000002.12:g.112019523G>T
NG_011607.1:g.125910G>T
NM_006343.3:c.2189+1G>TMANE SELECT
NC_000002.11:g.112777100G>T
NM_006343.2:c.2189+1G>T
p.(=)

Nucleotide change:

IVS16DS, G-T, +1

Links:

OMIM: 604705.0004; dbSNP: rs371956016

NCBI 1000 Genomes Browser:

rs371956016

Molecular consequence:

NM_006343.3:c.2189+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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D020182 (1)
MeSH
Sleep Apnea, Central
Sleep Apnea, Central
A condition associated with multiple episodes of sleep apnea which are distinguished from obstructive sleep apnea (SLEEP APNEA, OBSTRUCTIVE) by the complete cessation of effor...<br/>Year introduced: 2000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741690	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Aug 10, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741690

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Aug 10, 2016)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000741690.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic	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	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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