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NM_020975.6(RET):c.2710T>G (p.Ser904Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 12, 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:
RCV002427074.3

Allele description [Variation Report for NM_020975.6(RET):c.2710T>G (p.Ser904Ala)]

NM_020975.6(RET):c.2710T>G (p.Ser904Ala)

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.2710T>G (p.Ser904Ala)
HGVS:
  • NC_000010.11:g.43120183T>G
  • NG_007489.1:g.48115T>G
  • NM_000323.2:c.2710T>G
  • NM_001355216.2:c.1948T>G
  • NM_001406743.1:c.2710T>G
  • NM_001406744.1:c.2710T>G
  • NM_001406759.1:c.2710T>G
  • NM_001406760.1:c.2710T>G
  • NM_001406761.1:c.2581T>G
  • NM_001406762.1:c.2581T>G
  • NM_001406763.1:c.2575T>G
  • NM_001406764.1:c.2581T>G
  • NM_001406765.1:c.2575T>G
  • NM_001406766.1:c.2422T>G
  • NM_001406767.1:c.2422T>G
  • NM_001406768.1:c.2446T>G
  • NM_001406769.1:c.2314T>G
  • NM_001406770.1:c.2422T>G
  • NM_001406771.1:c.2272T>G
  • NM_001406772.1:c.2314T>G
  • NM_001406773.1:c.2272T>G
  • NM_001406774.1:c.2185T>G
  • NM_001406775.1:c.1984T>G
  • NM_001406776.1:c.1984T>G
  • NM_001406777.1:c.1984T>G
  • NM_001406778.1:c.1984T>G
  • NM_001406779.1:c.1813T>G
  • NM_001406780.1:c.1813T>G
  • NM_001406781.1:c.1813T>G
  • NM_001406782.1:c.1813T>G
  • NM_001406783.1:c.1684T>G
  • NM_001406784.1:c.1720T>G
  • NM_001406785.1:c.1693T>G
  • NM_001406786.1:c.1684T>G
  • NM_001406787.1:c.1678T>G
  • NM_001406788.1:c.1525T>G
  • NM_001406789.1:c.1525T>G
  • NM_001406790.1:c.1525T>G
  • NM_001406791.1:c.1405T>G
  • NM_001406792.1:c.1261T>G
  • NM_001406793.1:c.1261T>G
  • NM_001406794.1:c.1261T>G
  • NM_020629.2:c.2710T>G
  • NM_020630.7:c.2710T>G
  • NM_020975.6:c.2710T>GMANE SELECT
  • NP_000314.1:p.Ser904Ala
  • NP_001342145.1:p.Ser650Ala
  • NP_001342145.1:p.Ser650Ala
  • NP_001393672.1:p.Ser904Ala
  • NP_001393673.1:p.Ser904Ala
  • NP_001393688.1:p.Ser904Ala
  • NP_001393689.1:p.Ser904Ala
  • NP_001393690.1:p.Ser861Ala
  • NP_001393691.1:p.Ser861Ala
  • NP_001393692.1:p.Ser859Ala
  • NP_001393693.1:p.Ser861Ala
  • NP_001393694.1:p.Ser859Ala
  • NP_001393695.1:p.Ser808Ala
  • NP_001393696.1:p.Ser808Ala
  • NP_001393697.1:p.Ser816Ala
  • NP_001393698.1:p.Ser772Ala
  • NP_001393699.1:p.Ser808Ala
  • NP_001393700.1:p.Ser758Ala
  • NP_001393701.1:p.Ser772Ala
  • NP_001393702.1:p.Ser758Ala
  • NP_001393703.1:p.Ser729Ala
  • NP_001393704.1:p.Ser662Ala
  • NP_001393705.1:p.Ser662Ala
  • NP_001393706.1:p.Ser662Ala
  • NP_001393707.1:p.Ser662Ala
  • NP_001393708.1:p.Ser605Ala
  • NP_001393709.1:p.Ser605Ala
  • NP_001393710.1:p.Ser605Ala
  • NP_001393711.1:p.Ser605Ala
  • NP_001393712.1:p.Ser562Ala
  • NP_001393713.1:p.Ser574Ala
  • NP_001393714.1:p.Ser565Ala
  • NP_001393715.1:p.Ser562Ala
  • NP_001393716.1:p.Ser560Ala
  • NP_001393717.1:p.Ser509Ala
  • NP_001393718.1:p.Ser509Ala
  • NP_001393719.1:p.Ser509Ala
  • NP_001393720.1:p.Ser469Ala
  • NP_001393721.1:p.Ser421Ala
  • NP_001393722.1:p.Ser421Ala
  • NP_001393723.1:p.Ser421Ala
  • NP_065680.1:p.Ser904Ala
  • NP_065681.1:p.Ser904Ala
  • NP_065681.1:p.Ser904Ala
  • NP_065681.1:p.Ser904Ala
  • NP_066124.1:p.Ser904Ala
  • NP_066124.1:p.Ser904Ala
  • LRG_518t1:c.2710T>G
  • LRG_518t2:c.2710T>G
  • LRG_518:g.48115T>G
  • LRG_518p1:p.Ser904Ala
  • LRG_518p2:p.Ser904Ala
  • NC_000010.10:g.43615631T>G
  • NM_001355216.1:c.1948T>G
  • NM_020630.4:c.2710T>G
  • NM_020630.6:c.2710T>G
  • NM_020975.4:c.2710T>G
Protein change:
S421A
Links:
dbSNP: rs1588877711
NCBI 1000 Genomes Browser:
rs1588877711
Molecular consequence:
  • NM_000323.2:c.2710T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355216.2:c.1948T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.2710T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.2710T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.2710T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.2710T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.2581T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.2581T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.2575T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.2581T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.2575T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406766.1:c.2422T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406767.1:c.2422T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.2446T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.2314T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406770.1:c.2422T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.2272T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.2314T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.2272T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.2185T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406775.1:c.1984T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406776.1:c.1984T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406777.1:c.1984T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406778.1:c.1984T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406779.1:c.1813T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406780.1:c.1813T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406781.1:c.1813T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406782.1:c.1813T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406783.1:c.1684T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406784.1:c.1720T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406785.1:c.1693T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406786.1:c.1684T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406787.1:c.1678T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406788.1:c.1525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406789.1:c.1525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406790.1:c.1525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406791.1:c.1405T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406792.1:c.1261T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406793.1:c.1261T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406794.1:c.1261T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.2710T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.2710T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.2710T>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002741401Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 12, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918.

Menko FH, van der Luijt RB, de Valk IA, Toorians AW, Sepers JM, van Diest PJ, Lips CJ.

J Clin Endocrinol Metab. 2002 Jan;87(1):393-7.

PubMed [citation]
PMID:
11788682

RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center.

Elisei R, Romei C, Cosci B, Agate L, Bottici V, Molinaro E, Sculli M, Miccoli P, Basolo F, Grasso L, Pacini F, Pinchera A.

J Clin Endocrinol Metab. 2007 Dec;92(12):4725-9. Epub 2007 Sep 25.

PubMed [citation]
PMID:
17895320
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002741401.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.S904A variant (also known as c.2710T>G), located in coding exon 15 of the RET gene, results from a T to G substitution at nucleotide position 2710. The serine at codon 904 is replaced by alanine, an amino acid with similar properties. Other alterations at codon 904 have been detected in MEN 2B and medullary thyroid cancer families; however the pathogenicity of these alterations remains unclear (Elisei R et al, J. Clin. Endocrinol. Metab. 2007 Dec; 92(12):4725-9. Menko FH et al, J. Clin. Endocrinol. Metab. 2002 Jan; 87(1):393-7). This amino acid position is highly conserved in available vertebrate species. 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.

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

Last Updated: May 12, 2024