NM_020975.6(RET):c.2288A>G (p.Asn763Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 23, 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:: RCV002446186.2

Allele description [Variation Report for NM_020975.6(RET):c.2288A>G (p.Asn763Ser)]

NM_020975.6(RET):c.2288A>G (p.Asn763Ser)

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.2288A>G (p.Asn763Ser)

HGVS:

NC_000010.11:g.43118376A>G
NG_007489.1:g.46308A>G
NM_000323.2:c.2288A>G
NM_001355216.2:c.1526A>G
NM_001406743.1:c.2288A>G
NM_001406744.1:c.2288A>G
NM_001406759.1:c.2288A>G
NM_001406760.1:c.2288A>G
NM_001406761.1:c.2159A>G
NM_001406762.1:c.2159A>G
NM_001406763.1:c.2153A>G
NM_001406764.1:c.2159A>G
NM_001406765.1:c.2153A>G
NM_001406766.1:c.2000A>G
NM_001406767.1:c.2000A>G
NM_001406768.1:c.2024A>G
NM_001406769.1:c.1892A>G
NM_001406770.1:c.2000A>G
NM_001406771.1:c.1850A>G
NM_001406772.1:c.1892A>G
NM_001406773.1:c.1850A>G
NM_001406774.1:c.1763A>G
NM_001406775.1:c.1562A>G
NM_001406776.1:c.1562A>G
NM_001406777.1:c.1562A>G
NM_001406778.1:c.1562A>G
NM_001406779.1:c.1391A>G
NM_001406780.1:c.1391A>G
NM_001406781.1:c.1391A>G
NM_001406782.1:c.1391A>G
NM_001406783.1:c.1262A>G
NM_001406784.1:c.1298A>G
NM_001406785.1:c.1271A>G
NM_001406786.1:c.1262A>G
NM_001406787.1:c.1256A>G
NM_001406788.1:c.1103A>G
NM_001406789.1:c.1103A>G
NM_001406790.1:c.1103A>G
NM_001406791.1:c.983A>G
NM_001406792.1:c.839A>G
NM_001406793.1:c.839A>G
NM_001406794.1:c.839A>G
NM_020629.2:c.2288A>G
NM_020630.7:c.2288A>G
NM_020975.6:c.2288A>GMANE SELECT
NP_000314.1:p.Asn763Ser
NP_001342145.1:p.Asn509Ser
NP_001342145.1:p.Asn509Ser
NP_001393672.1:p.Asn763Ser
NP_001393673.1:p.Asn763Ser
NP_001393688.1:p.Asn763Ser
NP_001393689.1:p.Asn763Ser
NP_001393690.1:p.Asn720Ser
NP_001393691.1:p.Asn720Ser
NP_001393692.1:p.Asn718Ser
NP_001393693.1:p.Asn720Ser
NP_001393694.1:p.Asn718Ser
NP_001393695.1:p.Asn667Ser
NP_001393696.1:p.Asn667Ser
NP_001393697.1:p.Asn675Ser
NP_001393698.1:p.Asn631Ser
NP_001393699.1:p.Asn667Ser
NP_001393700.1:p.Asn617Ser
NP_001393701.1:p.Asn631Ser
NP_001393702.1:p.Asn617Ser
NP_001393703.1:p.Asn588Ser
NP_001393704.1:p.Asn521Ser
NP_001393705.1:p.Asn521Ser
NP_001393706.1:p.Asn521Ser
NP_001393707.1:p.Asn521Ser
NP_001393708.1:p.Asn464Ser
NP_001393709.1:p.Asn464Ser
NP_001393710.1:p.Asn464Ser
NP_001393711.1:p.Asn464Ser
NP_001393712.1:p.Asn421Ser
NP_001393713.1:p.Asn433Ser
NP_001393714.1:p.Asn424Ser
NP_001393715.1:p.Asn421Ser
NP_001393716.1:p.Asn419Ser
NP_001393717.1:p.Asn368Ser
NP_001393718.1:p.Asn368Ser
NP_001393719.1:p.Asn368Ser
NP_001393720.1:p.Asn328Ser
NP_001393721.1:p.Asn280Ser
NP_001393722.1:p.Asn280Ser
NP_001393723.1:p.Asn280Ser
NP_065680.1:p.Asn763Ser
NP_065681.1:p.Asn763Ser
NP_065681.1:p.Asn763Ser
NP_065681.1:p.Asn763Ser
NP_066124.1:p.Asn763Ser
NP_066124.1:p.Asn763Ser
LRG_518t1:c.2288A>G
LRG_518t2:c.2288A>G
LRG_518:g.46308A>G
LRG_518p1:p.Asn763Ser
LRG_518p2:p.Asn763Ser
NC_000010.10:g.43613824A>G
NM_001355216.1:c.1526A>G
NM_020630.4:c.2288A>G
NM_020630.6:c.2288A>G
NM_020975.4:c.2288A>G

Protein change:

N280S

Molecular consequence:

NM_000323.2:c.2288A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001355216.2:c.1526A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.2288A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.2288A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.2288A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.2288A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.2159A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.2159A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.2153A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.2159A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.2153A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.2000A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.2000A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.2024A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.1892A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.2000A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.1850A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.1892A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.1850A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.1763A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.1262A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406784.1:c.1298A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.1262A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.1256A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.1103A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.1103A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.1103A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.983A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406792.1:c.839A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406793.1:c.839A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406794.1:c.839A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.2288A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.2288A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.2288A>G - 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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Homo sapiens muscleblind like splicing regulator 1 (MBNL1), transcript variant 4...
Homo sapiens muscleblind like splicing regulator 1 (MBNL1), transcript variant 4, mRNA
gi|46411167|ref|NM_207294.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002734745	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 23, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002734745

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 23, 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, SCV002734745.2

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

Description

The p.N763S variant (also known as c.2288A>G), located in coding exon 13 of the RET gene, results from an A to G substitution at nucleotide position 2288. The asparagine at codon 763 is replaced by serine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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 1, 2024

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