U.S. flag

An official website of the United States government

NM_020975.6(RET):c.1879+14G>A AND Multiple endocrine neoplasia type 2A

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 22, 2017
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:
RCV000662734.2

Allele description [Variation Report for NM_020975.6(RET):c.1879+14G>A]

NM_020975.6(RET):c.1879+14G>A

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.1879+14G>A
HGVS:
  • NC_000010.11:g.43113689G>A
  • NG_007489.1:g.41621G>A
  • NM_001355216.2:c.1117+14G>A
  • NM_001406743.1:c.1879+14G>A
  • NM_001406744.1:c.1879+14G>A
  • NM_001406759.1:c.1879+14G>A
  • NM_001406760.1:c.1879+14G>A
  • NM_001406761.1:c.1750+14G>A
  • NM_001406762.1:c.1750+14G>A
  • NM_001406763.1:c.1879+14G>A
  • NM_001406764.1:c.1750+14G>A
  • NM_001406765.1:c.1879+14G>A
  • NM_001406766.1:c.1591+14G>A
  • NM_001406767.1:c.1591+14G>A
  • NM_001406768.1:c.1750+14G>A
  • NM_001406769.1:c.1483+14G>A
  • NM_001406770.1:c.1591+14G>A
  • NM_001406771.1:c.1441+14G>A
  • NM_001406772.1:c.1483+14G>A
  • NM_001406773.1:c.1441+14G>A
  • NM_001406774.1:c.1354+14G>A
  • NM_001406775.1:c.1153+14G>A
  • NM_001406776.1:c.1153+14G>A
  • NM_001406777.1:c.1153+14G>A
  • NM_001406778.1:c.1153+14G>A
  • NM_001406779.1:c.982+14G>A
  • NM_001406780.1:c.982+14G>A
  • NM_001406781.1:c.982+14G>A
  • NM_001406782.1:c.982+14G>A
  • NM_001406783.1:c.853+14G>A
  • NM_001406784.1:c.889+14G>A
  • NM_001406785.1:c.862+726G>A
  • NM_001406786.1:c.853+14G>A
  • NM_001406787.1:c.982+14G>A
  • NM_001406788.1:c.694+14G>A
  • NM_001406789.1:c.694+14G>A
  • NM_001406790.1:c.694+14G>A
  • NM_001406791.1:c.574+726G>A
  • NM_001406792.1:c.430+14G>A
  • NM_001406793.1:c.430+14G>A
  • NM_001406794.1:c.430+14G>A
  • NM_020630.7:c.1879+14G>A
  • NM_020975.6:c.1879+14G>AMANE SELECT
  • LRG_518t1:c.1879+14G>A
  • LRG_518:g.41621G>A
  • NC_000010.10:g.43609137G>A
  • NM_020975.4:c.1879+14G>A
Links:
dbSNP: rs532810255
NCBI 1000 Genomes Browser:
rs532810255
Molecular consequence:
  • NM_001355216.2:c.1117+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406743.1:c.1879+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406744.1:c.1879+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406759.1:c.1879+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406760.1:c.1879+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406761.1:c.1750+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406762.1:c.1750+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406763.1:c.1879+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406764.1:c.1750+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406765.1:c.1879+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406766.1:c.1591+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406767.1:c.1591+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406768.1:c.1750+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406769.1:c.1483+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406770.1:c.1591+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406771.1:c.1441+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406772.1:c.1483+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406773.1:c.1441+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406774.1:c.1354+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406775.1:c.1153+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406776.1:c.1153+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406777.1:c.1153+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406778.1:c.1153+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406779.1:c.982+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406780.1:c.982+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406781.1:c.982+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406782.1:c.982+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406783.1:c.853+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406784.1:c.889+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406785.1:c.862+726G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406786.1:c.853+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406787.1:c.982+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406788.1:c.694+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406789.1:c.694+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406790.1:c.694+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406791.1:c.574+726G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406792.1:c.430+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406793.1:c.430+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406794.1:c.430+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020630.7:c.1879+14G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020975.6:c.1879+14G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Multiple endocrine neoplasia type 2A
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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000785505Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Likely benign
(Aug 22, 2017) 		unknownclinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000785505.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024