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NM_020975.6(RET):c.57G>C (p.Leu19=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 6, 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:
RCV002354789.2

Allele description [Variation Report for NM_020975.6(RET):c.57G>C (p.Leu19=)]

NM_020975.6(RET):c.57G>C (p.Leu19=)

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.57G>C (p.Leu19=)
HGVS:
  • NC_000010.11:g.43077315G>C
  • NG_007489.1:g.5247G>C
  • NG_045003.1:g.4502G>C
  • NM_000323.2:c.57G>C
  • NM_001406743.1:c.57G>C
  • NM_001406744.1:c.57G>C
  • NM_001406759.1:c.57G>C
  • NM_001406760.1:c.57G>C
  • NM_001406761.1:c.57G>C
  • NM_001406762.1:c.57G>C
  • NM_001406763.1:c.57G>C
  • NM_001406764.1:c.57G>C
  • NM_001406765.1:c.57G>C
  • NM_001406766.1:c.57G>C
  • NM_001406767.1:c.57G>C
  • NM_001406768.1:c.57G>C
  • NM_001406769.1:c.57G>C
  • NM_001406770.1:c.57G>C
  • NM_001406771.1:c.57G>C
  • NM_001406772.1:c.57G>C
  • NM_001406773.1:c.57G>C
  • NM_001406774.1:c.57G>C
  • NM_001406775.1:c.57G>C
  • NM_001406776.1:c.57G>C
  • NM_001406777.1:c.57G>C
  • NM_001406778.1:c.57G>C
  • NM_001406779.1:c.57G>C
  • NM_001406780.1:c.57G>C
  • NM_001406781.1:c.57G>C
  • NM_001406782.1:c.57G>C
  • NM_001406783.1:c.57G>C
  • NM_001406784.1:c.57G>C
  • NM_001406785.1:c.57G>C
  • NM_001406786.1:c.57G>C
  • NM_001406787.1:c.57G>C
  • NM_001406788.1:c.57G>C
  • NM_001406789.1:c.57G>C
  • NM_001406790.1:c.57G>C
  • NM_001406791.1:c.57G>C
  • NM_001406792.1:c.57G>C
  • NM_001406793.1:c.57G>C
  • NM_001406794.1:c.57G>C
  • NM_020629.2:c.57G>C
  • NM_020630.7:c.57G>C
  • NM_020975.6:c.57G>CMANE SELECT
  • NP_000314.1:p.Leu19=
  • NP_001393672.1:p.Leu19=
  • NP_001393673.1:p.Leu19=
  • NP_001393688.1:p.Leu19=
  • NP_001393689.1:p.Leu19=
  • NP_001393690.1:p.Leu19=
  • NP_001393691.1:p.Leu19=
  • NP_001393692.1:p.Leu19=
  • NP_001393693.1:p.Leu19=
  • NP_001393694.1:p.Leu19=
  • NP_001393695.1:p.Leu19=
  • NP_001393696.1:p.Leu19=
  • NP_001393697.1:p.Leu19=
  • NP_001393698.1:p.Leu19=
  • NP_001393699.1:p.Leu19=
  • NP_001393700.1:p.Leu19=
  • NP_001393701.1:p.Leu19=
  • NP_001393702.1:p.Leu19=
  • NP_001393703.1:p.Leu19=
  • NP_001393704.1:p.Leu19=
  • NP_001393705.1:p.Leu19=
  • NP_001393706.1:p.Leu19=
  • NP_001393707.1:p.Leu19=
  • NP_001393708.1:p.Leu19=
  • NP_001393709.1:p.Leu19=
  • NP_001393710.1:p.Leu19=
  • NP_001393711.1:p.Leu19=
  • NP_001393712.1:p.Leu19=
  • NP_001393713.1:p.Leu19=
  • NP_001393714.1:p.Leu19=
  • NP_001393715.1:p.Leu19=
  • NP_001393716.1:p.Leu19=
  • NP_001393717.1:p.Leu19=
  • NP_001393718.1:p.Leu19=
  • NP_001393719.1:p.Leu19=
  • NP_001393720.1:p.Leu19=
  • NP_001393721.1:p.Leu19=
  • NP_001393722.1:p.Leu19=
  • NP_001393723.1:p.Leu19=
  • NP_065680.1:p.Leu19=
  • NP_065681.1:p.Leu19=
  • NP_065681.1:p.Leu19=
  • NP_066124.1:p.Leu19=
  • NP_066124.1:p.Leu19=
  • LRG_518t1:c.57G>C
  • LRG_518t2:c.57G>C
  • LRG_518:g.5247G>C
  • LRG_518p1:p.Leu19=
  • LRG_518p2:p.Leu19=
  • NC_000010.10:g.43572763G>C
  • NM_020630.4:c.57G>C
  • NM_020975.4:c.57G>C
Links:
dbSNP: rs1316429203
NCBI 1000 Genomes Browser:
rs1316429203
Molecular consequence:
  • NM_000323.2:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406743.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406744.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406759.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406760.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406761.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406762.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406763.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406764.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406765.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406766.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406767.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406768.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406769.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406770.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406771.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406772.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406773.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406774.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406775.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406776.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406777.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406778.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406779.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406780.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406781.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406782.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406783.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406784.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406785.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406786.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406787.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406788.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406789.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406790.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406791.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406792.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406793.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406794.1:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020629.2:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020630.7:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020975.6:c.57G>C - synonymous variant - [Sequence Ontology: SO:0001819]

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002648999Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 6, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002648999.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024