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NM_020975.6(RET):c.2454G>A (p.Glu818_Ser819=) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV000764901.1

Allele description

NM_020975.6(RET):c.2454G>A (p.Glu818_Ser819=)

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.2454G>A (p.Glu818_Ser819=)
HGVS:
  • NC_000010.11:g.43119592G>A
  • NG_007489.1:g.47524G>A
  • NM_020975.6:c.2454G>AMANE SELECT
  • NP_001342145.1:p.Glu564_Ser565=
  • NP_065681.1:p.Glu818_Ser819=
  • NP_066124.1:p.Glu818_Ser819=
  • LRG_518:g.47524G>A
  • NC_000010.10:g.43615040G>A
  • NM_001355216.1:c.1692G>A
  • NM_020630.6:c.2454G>A
Links:
dbSNP: rs794727131
NCBI 1000 Genomes Browser:
rs794727131
Molecular consequence:
  • NM_020975.6:c.2454G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Congenital central hypoventilation (CCHS1)
Synonyms:
Idiopathic congenital central alveolar hypoventilation; Congenital failure of autonomic control; Primary alveolar hypoventilation; See all synonyms [MedGen]
Identifiers:
MedGen: C5562075; Orphanet: 661; Orphanet: 99803; OMIM: 209880
Name:
Hirschsprung disease, susceptibility to, 1
Synonyms:
Hirschsprung disease 1; HSCR 1; RET-Related Hirschsprung Disease
Identifiers:
MONDO: MONDO:0007723; MedGen: C3888239; Orphanet: 388; OMIM: 142623
Name:
Multiple endocrine neoplasia, type 2b (MEN2B)
Synonyms:
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN IIB; NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008082; MeSH: D018814; MedGen: C0025269; Orphanet: 653; OMIM: 162300
Name:
Pheochromocytoma
Synonyms:
Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666
Name:
Familial medullary thyroid carcinoma (MTC)
Synonyms:
Thyroid cancer, familial medullary; MTC, familial
Identifiers:
MONDO: MONDO:0007958; MedGen: C1833921; Orphanet: 653; OMIM: 155240
Name:
Multiple endocrine neoplasia, type 2a (MEN2A)
Synonyms:
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; Sipple syndrome; MEN 2A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008234; MeSH: D018813; MedGen: C0025268; Orphanet: 653; OMIM: 171400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000896061Fulgent Genetics,Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 31, 2018) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000896061.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 18, 2022