NM_006343.3(MERTK):c.2608G>A (p.Val870Ile) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 17, 2014
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:: RCV000153488.14

Allele description [Variation Report for NM_006343.3(MERTK):c.2608G>A (p.Val870Ile)]

NM_006343.3(MERTK):c.2608G>A (p.Val870Ile)

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.2608G>A (p.Val870Ile)

HGVS:

NC_000002.12:g.112028472G>A
NG_011607.1:g.134859G>A
NM_006343.3:c.2608G>AMANE SELECT
NP_006334.2:p.Val870Ile
NP_006334.2:p.Val870Ile
NC_000002.11:g.112786049G>A
NM_006343.2:c.2608G>A
Q12866:p.Val870Ile

Protein change:

V870I

Links:

UniProtKB: Q12866#VAR_029237; dbSNP: rs2230517

NCBI 1000 Genomes Browser:

rs2230517

Molecular consequence:

NM_006343.3:c.2608G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

A multitargeting approach rewires cell identity in fusion-negative rhabdomyosarc...
A multitargeting approach rewires cell identity in fusion-negative rhabdomyosarcoma [Human_RNAseq_bulk]
A multitargeting approach rewires cell identity in fusion-negative rhabdomyosarcoma [Human_RNAseq_bulk]

BioProject
AMACR [Prionailurus bengalensis]
AMACR [Prionailurus bengalensis]
Gene ID:122494817

Gene

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
SCV000203006	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Mar 17, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000203006

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Mar 17, 2014)

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

Details of each submission

From Eurofins Ntd Llc (ga), SCV000203006.7

#	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

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine