NM_020975.6(RET):c.2307= (p.Leu769=) AND none provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 22, 2020
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:: RCV001283686.1

Allele description

NM_020975.6(RET):c.2307= (p.Leu769=)

Gene:

RET:ret proto-oncogene [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.21

Genomic location:

Preferred name:

NM_020975.6(RET):c.2307= (p.Leu769=)

Other names:

L769L

HGVS:

NC_000010.11:g.43118395=
NG_007489.1:g.46327T>G
NM_001355216.1:c.1545=
NM_020630.6:c.2307=
NM_020975.6:c.2307=MANE SELECT
NP_001342145.1:p.Leu515=
NP_065681.1:p.Leu769=
NP_066124.1:p.Leu769=
LRG_518t2:c.2307T>G
LRG_518:g.46327T>G
NC_000010.10:g.43613843=
NC_000010.10:g.43613843G=
NM_020630.4:c.2307T>G

Links:

dbSNP: rs1800861

NCBI 1000 Genomes Browser:

rs1800861

Molecular consequence:

NM_001355216.1:c.1545= - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_020630.6:c.2307= - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_020975.6:c.2307= - no sequence alteration - [Sequence Ontology: SO:0002073]

Condition(s)

Name:: none provided
Identifiers:: MedGen: CN235283

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000605020	ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Benign (Jul 22, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000605020

ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Benign
(Jul 22, 2020)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000605020.3

#	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: Oct 30, 2021

ClinVar

Relating variation to medicine