NM_020975.6(RET):c.155A>C (p.Tyr52Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 11, 2023
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:: RCV004524628.1

Allele description [Variation Report for NM_020975.6(RET):c.155A>C (p.Tyr52Ser)]

NM_020975.6(RET):c.155A>C (p.Tyr52Ser)

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.155A>C (p.Tyr52Ser)

HGVS:

NC_000010.11:g.43100540A>C
NG_007489.1:g.28472A>C
NM_000323.2:c.155A>C
NM_001406743.1:c.155A>C
NM_001406744.1:c.155A>C
NM_001406759.1:c.155A>C
NM_001406760.1:c.155A>C
NM_001406761.1:c.155A>C
NM_001406762.1:c.155A>C
NM_001406763.1:c.155A>C
NM_001406764.1:c.155A>C
NM_001406765.1:c.155A>C
NM_001406766.1:c.155A>C
NM_001406767.1:c.155A>C
NM_001406768.1:c.155A>C
NM_001406769.1:c.155A>C
NM_001406770.1:c.155A>C
NM_001406771.1:c.155A>C
NM_001406772.1:c.155A>C
NM_001406773.1:c.155A>C
NM_001406774.1:c.155A>C
NM_001406775.1:c.155A>C
NM_001406776.1:c.155A>C
NM_001406777.1:c.155A>C
NM_001406778.1:c.155A>C
NM_001406779.1:c.155A>C
NM_001406780.1:c.155A>C
NM_001406781.1:c.155A>C
NM_001406782.1:c.155A>C
NM_001406783.1:c.155A>C
NM_001406784.1:c.74-8491A>C
NM_001406785.1:c.155A>C
NM_001406786.1:c.155A>C
NM_001406787.1:c.155A>C
NM_001406788.1:c.155A>C
NM_001406789.1:c.155A>C
NM_001406790.1:c.155A>C
NM_001406791.1:c.155A>C
NM_001406792.1:c.74-11559A>C
NM_001406793.1:c.74-11559A>C
NM_001406794.1:c.74-11559A>C
NM_020629.2:c.155A>C
NM_020630.7:c.155A>C
NM_020975.6:c.155A>CMANE SELECT
NP_000314.1:p.Tyr52Ser
NP_001393672.1:p.Tyr52Ser
NP_001393673.1:p.Tyr52Ser
NP_001393688.1:p.Tyr52Ser
NP_001393689.1:p.Tyr52Ser
NP_001393690.1:p.Tyr52Ser
NP_001393691.1:p.Tyr52Ser
NP_001393692.1:p.Tyr52Ser
NP_001393693.1:p.Tyr52Ser
NP_001393694.1:p.Tyr52Ser
NP_001393695.1:p.Tyr52Ser
NP_001393696.1:p.Tyr52Ser
NP_001393697.1:p.Tyr52Ser
NP_001393698.1:p.Tyr52Ser
NP_001393699.1:p.Tyr52Ser
NP_001393700.1:p.Tyr52Ser
NP_001393701.1:p.Tyr52Ser
NP_001393702.1:p.Tyr52Ser
NP_001393703.1:p.Tyr52Ser
NP_001393704.1:p.Tyr52Ser
NP_001393705.1:p.Tyr52Ser
NP_001393706.1:p.Tyr52Ser
NP_001393707.1:p.Tyr52Ser
NP_001393708.1:p.Tyr52Ser
NP_001393709.1:p.Tyr52Ser
NP_001393710.1:p.Tyr52Ser
NP_001393711.1:p.Tyr52Ser
NP_001393712.1:p.Tyr52Ser
NP_001393714.1:p.Tyr52Ser
NP_001393715.1:p.Tyr52Ser
NP_001393716.1:p.Tyr52Ser
NP_001393717.1:p.Tyr52Ser
NP_001393718.1:p.Tyr52Ser
NP_001393719.1:p.Tyr52Ser
NP_001393720.1:p.Tyr52Ser
NP_065680.1:p.Tyr52Ser
NP_065681.1:p.Tyr52Ser
NP_065681.1:p.Tyr52Ser
NP_066124.1:p.Tyr52Ser
NP_066124.1:p.Tyr52Ser
LRG_518t1:c.155A>C
LRG_518t2:c.155A>C
LRG_518:g.28472A>C
LRG_518p1:p.Tyr52Ser
LRG_518p2:p.Tyr52Ser
NC_000010.10:g.43595988A>C
NM_020630.4:c.155A>C
NM_020975.4:c.155A>C

Protein change:

Y52S

Molecular consequence:

NM_001406784.1:c.74-8491A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406792.1:c.74-11559A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406793.1:c.74-11559A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001406794.1:c.74-11559A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000323.2:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.155A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005028226	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 11, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005028226

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 11, 2023)

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, SCV005028226.1

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

Description

The p.Y52S variant (also known as c.155A>C), located in coding exon 2 of the RET gene, results from an A to C substitution at nucleotide position 155. The tyrosine at codon 52 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

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