NM_020975.6(RET):c.44TGC[3] (p.Leu18_Leu19del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 18, 2021
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:: RCV002346246.2

Allele description [Variation Report for NM_020975.6(RET):c.44TGC[3] (p.Leu18_Leu19del)]

NM_020975.6(RET):c.44TGC[3] (p.Leu18_Leu19del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

10q11.21

Genomic location:

Preferred name:

NM_020975.6(RET):c.44TGC[3] (p.Leu18_Leu19del)

HGVS:

NC_000010.11:g.43077302TGC[3]
NC_000010.11:g.43077302_43077304TGC[3]
NG_007489.1:g.5234TGC[3]
NG_045003.1:g.4489TGC[3]
NM_000323.2:c.44_46TGC[3]
NM_001406743.1:c.44_46TGC[3]
NM_001406744.1:c.44_46TGC[3]
NM_001406759.1:c.44_46TGC[3]
NM_001406760.1:c.44_46TGC[3]
NM_001406761.1:c.44_46TGC[3]
NM_001406762.1:c.44_46TGC[3]
NM_001406763.1:c.44_46TGC[3]
NM_001406764.1:c.44_46TGC[3]
NM_001406765.1:c.44_46TGC[3]
NM_001406766.1:c.44_46TGC[3]
NM_001406767.1:c.44_46TGC[3]
NM_001406768.1:c.44_46TGC[3]
NM_001406769.1:c.44_46TGC[3]
NM_001406770.1:c.44_46TGC[3]
NM_001406771.1:c.44_46TGC[3]
NM_001406772.1:c.44_46TGC[3]
NM_001406773.1:c.44_46TGC[3]
NM_001406774.1:c.44_46TGC[3]
NM_001406775.1:c.44_46TGC[3]
NM_001406776.1:c.44_46TGC[3]
NM_001406777.1:c.44_46TGC[3]
NM_001406778.1:c.44_46TGC[3]
NM_001406779.1:c.44_46TGC[3]
NM_001406780.1:c.44_46TGC[3]
NM_001406781.1:c.44_46TGC[3]
NM_001406782.1:c.44_46TGC[3]
NM_001406783.1:c.44_46TGC[3]
NM_001406784.1:c.44_46TGC[3]
NM_001406785.1:c.44_46TGC[3]
NM_001406786.1:c.44_46TGC[3]
NM_001406787.1:c.44_46TGC[3]
NM_001406788.1:c.44_46TGC[3]
NM_001406789.1:c.44_46TGC[3]
NM_001406790.1:c.44_46TGC[3]
NM_001406791.1:c.44_46TGC[3]
NM_001406792.1:c.44_46TGC[3]
NM_001406793.1:c.44_46TGC[3]
NM_001406794.1:c.44_46TGC[3]
NM_020629.2:c.44_46TGC[3]
NM_020630.7:c.44_46TGC[3]
NM_020975.6:c.44TGC[3]MANE SELECT
NP_000314.1:p.Leu18_Leu19del
NP_001393672.1:p.Leu18_Leu19del
NP_001393673.1:p.Leu18_Leu19del
NP_001393688.1:p.Leu18_Leu19del
NP_001393689.1:p.Leu18_Leu19del
NP_001393690.1:p.Leu18_Leu19del
NP_001393691.1:p.Leu18_Leu19del
NP_001393692.1:p.Leu18_Leu19del
NP_001393693.1:p.Leu18_Leu19del
NP_001393694.1:p.Leu18_Leu19del
NP_001393695.1:p.Leu18_Leu19del
NP_001393696.1:p.Leu18_Leu19del
NP_001393697.1:p.Leu18_Leu19del
NP_001393698.1:p.Leu18_Leu19del
NP_001393699.1:p.Leu18_Leu19del
NP_001393700.1:p.Leu18_Leu19del
NP_001393701.1:p.Leu18_Leu19del
NP_001393702.1:p.Leu18_Leu19del
NP_001393703.1:p.Leu18_Leu19del
NP_001393704.1:p.Leu18_Leu19del
NP_001393705.1:p.Leu18_Leu19del
NP_001393706.1:p.Leu18_Leu19del
NP_001393707.1:p.Leu18_Leu19del
NP_001393708.1:p.Leu18_Leu19del
NP_001393709.1:p.Leu18_Leu19del
NP_001393710.1:p.Leu18_Leu19del
NP_001393711.1:p.Leu18_Leu19del
NP_001393712.1:p.Leu18_Leu19del
NP_001393713.1:p.Leu18_Leu19del
NP_001393714.1:p.Leu18_Leu19del
NP_001393715.1:p.Leu18_Leu19del
NP_001393716.1:p.Leu18_Leu19del
NP_001393717.1:p.Leu18_Leu19del
NP_001393718.1:p.Leu18_Leu19del
NP_001393719.1:p.Leu18_Leu19del
NP_001393720.1:p.Leu18_Leu19del
NP_001393721.1:p.Leu18_Leu19del
NP_001393722.1:p.Leu18_Leu19del
NP_001393723.1:p.Leu18_Leu19del
NP_065680.1:p.Leu18_Leu19del
NP_065681.1:p.Leu18_Leu19del
NP_065681.1:p.Leu18_Leu19del
NP_065681.1:p.Leu18_Leu19del
NP_066124.1:p.Leu18_Leu19del
NP_066124.1:p.Leu18_Leu19del
LRG_518t1:c.53_58del
LRG_518t2:c.44_46TGC[3]
LRG_518:g.5234TGC[3]
LRG_518p2:p.Leu18_Leu19del
NC_000010.10:g.43572750TGC[3]
NC_000010.10:g.43572750_43572755del
NM_020630.4:c.44_46TGC[3]
NM_020630.6:c.44TGC[3]
NM_020975.4:c.44_46TGC[3]
NM_020975.4:c.53_58del
NM_020975.4:c.53_58delTGCTGC

Links:

dbSNP: rs768132465

NCBI 1000 Genomes Browser:

rs768132465

Molecular consequence:

NM_020975.6:c.44TGC[3] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_000323.2:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406743.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406744.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406759.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406760.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406761.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406762.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406763.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406764.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406765.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406766.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406767.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406768.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406769.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406770.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406771.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406772.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406773.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406774.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406775.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406776.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406777.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406778.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406779.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406780.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406781.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406782.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406783.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406784.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406785.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406786.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406787.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406788.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406789.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406790.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406791.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406792.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406793.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406794.1:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_020629.2:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_020630.7:c.44_46TGC[3] - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002645711	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Oct 18, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002645711

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Oct 18, 2021)

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 Ambry Genetics, SCV002645711.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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

ClinVar

Relating variation to medicine