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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:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000203006Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Mar 17, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000203006.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024