NM_020975.6(RET):c.2454G>A (p.Glu818=) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000764901.1

Allele description [Variation Report for NM_020975.6(RET):c.2454G>A (p.Glu818=)]

NM_020975.6(RET):c.2454G>A (p.Glu818=)

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=)
HGVS:
  • NC_000010.11:g.43119592G>A
  • NG_007489.1:g.47524G>A
  • NM_001355216.1:c.1692G>A
  • NM_020630.6:c.2454G>A
  • NM_020975.6:c.2454G>AMANE SELECT
  • NP_001342145.1:p.Glu564=
  • NP_065681.1:p.Glu818=
  • NP_066124.1:p.Glu818=
  • LRG_518:g.47524G>A
  • NC_000010.10:g.43615040G>A
Links:
dbSNP: rs794727131
NCBI 1000 Genomes Browser:
rs794727131
Molecular consequence:
  • NM_001355216.1:c.1692G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020630.6:c.2454G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • 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:
MONDO: MONDO:0008852; MedGen: C1275808; Orphanet: 661; Orphanet: 99803; OMIM: 209880
Name:
Hirschsprung disease 1 (HSCR1)
Synonyms:
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000896061Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

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: Nov 20, 2021

Support Center