U.S. flag

An official website of the United States government

NM_020975.6(RET):c.1828A>C (p.Asn610His) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001535690.2

Allele description [Variation Report for NM_020975.6(RET):c.1828A>C (p.Asn610His)]

NM_020975.6(RET):c.1828A>C (p.Asn610His)

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.1828A>C (p.Asn610His)
HGVS:
  • NC_000010.11:g.43113624A>C
  • NG_007489.1:g.41556A>C
  • NM_000323.2:c.1828A>C
  • NM_001355216.2:c.1066A>C
  • NM_001406743.1:c.1828A>C
  • NM_001406744.1:c.1828A>C
  • NM_001406759.1:c.1828A>C
  • NM_001406760.1:c.1828A>C
  • NM_001406761.1:c.1699A>C
  • NM_001406762.1:c.1699A>C
  • NM_001406763.1:c.1828A>C
  • NM_001406764.1:c.1699A>C
  • NM_001406765.1:c.1828A>C
  • NM_001406766.1:c.1540A>C
  • NM_001406767.1:c.1540A>C
  • NM_001406768.1:c.1699A>C
  • NM_001406769.1:c.1432A>C
  • NM_001406770.1:c.1540A>C
  • NM_001406771.1:c.1390A>C
  • NM_001406772.1:c.1432A>C
  • NM_001406773.1:c.1390A>C
  • NM_001406774.1:c.1303A>C
  • NM_001406775.1:c.1102A>C
  • NM_001406776.1:c.1102A>C
  • NM_001406777.1:c.1102A>C
  • NM_001406778.1:c.1102A>C
  • NM_001406779.1:c.931A>C
  • NM_001406780.1:c.931A>C
  • NM_001406781.1:c.931A>C
  • NM_001406782.1:c.931A>C
  • NM_001406783.1:c.802A>C
  • NM_001406784.1:c.838A>C
  • NM_001406786.1:c.802A>C
  • NM_001406787.1:c.931A>C
  • NM_001406788.1:c.643A>C
  • NM_001406789.1:c.643A>C
  • NM_001406790.1:c.643A>C
  • NM_001406792.1:c.379A>C
  • NM_001406793.1:c.379A>C
  • NM_001406794.1:c.379A>C
  • NM_020629.2:c.1828A>C
  • NM_020630.7:c.1828A>C
  • NM_020975.6:c.1828A>CMANE SELECT
  • NP_000314.1:p.Asn610His
  • NP_001342145.1:p.Asn356His
  • NP_001342145.1:p.Asn356His
  • NP_001393672.1:p.Asn610His
  • NP_001393673.1:p.Asn610His
  • NP_001393688.1:p.Asn610His
  • NP_001393689.1:p.Asn610His
  • NP_001393690.1:p.Asn567His
  • NP_001393691.1:p.Asn567His
  • NP_001393692.1:p.Asn610His
  • NP_001393693.1:p.Asn567His
  • NP_001393694.1:p.Asn610His
  • NP_001393695.1:p.Asn514His
  • NP_001393696.1:p.Asn514His
  • NP_001393697.1:p.Asn567His
  • NP_001393698.1:p.Asn478His
  • NP_001393699.1:p.Asn514His
  • NP_001393700.1:p.Asn464His
  • NP_001393701.1:p.Asn478His
  • NP_001393702.1:p.Asn464His
  • NP_001393703.1:p.Asn435His
  • NP_001393704.1:p.Asn368His
  • NP_001393705.1:p.Asn368His
  • NP_001393706.1:p.Asn368His
  • NP_001393707.1:p.Asn368His
  • NP_001393708.1:p.Asn311His
  • NP_001393709.1:p.Asn311His
  • NP_001393710.1:p.Asn311His
  • NP_001393711.1:p.Asn311His
  • NP_001393712.1:p.Asn268His
  • NP_001393713.1:p.Asn280His
  • NP_001393715.1:p.Asn268His
  • NP_001393716.1:p.Asn311His
  • NP_001393717.1:p.Asn215His
  • NP_001393718.1:p.Asn215His
  • NP_001393719.1:p.Asn215His
  • NP_001393721.1:p.Asn127His
  • NP_001393722.1:p.Asn127His
  • NP_001393723.1:p.Asn127His
  • NP_065680.1:p.Asn610His
  • NP_065681.1:p.Asn610His
  • NP_065681.1:p.Asn610His
  • NP_065681.1:p.Asn610His
  • NP_066124.1:p.Asn610His
  • NP_066124.1:p.Asn610His
  • LRG_518t1:c.1828A>C
  • LRG_518t2:c.1828A>C
  • LRG_518:g.41556A>C
  • LRG_518p1:p.Asn610His
  • LRG_518p2:p.Asn610His
  • NC_000010.10:g.43609072A>C
  • NM_001355216.1:c.1066A>C
  • NM_020630.4:c.1828A>C
  • NM_020630.6:c.1828A>C
  • NM_020975.4:c.1828A>C
Protein change:
N127H
Links:
dbSNP: rs1837994023
NCBI 1000 Genomes Browser:
rs1837994023
Molecular consequence:
  • NM_000323.2:c.1828A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355216.2:c.1066A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.1828A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.1828A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.1828A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.1828A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.1699A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.1699A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.1828A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.1699A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.1828A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406766.1:c.1540A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406767.1:c.1540A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.1699A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.1432A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406770.1:c.1540A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.1390A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.1432A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.1390A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.1303A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406775.1:c.1102A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406776.1:c.1102A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406777.1:c.1102A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406778.1:c.1102A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406779.1:c.931A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406780.1:c.931A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406781.1:c.931A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406782.1:c.931A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406783.1:c.802A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406784.1:c.838A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406786.1:c.802A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406787.1:c.931A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406788.1:c.643A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406789.1:c.643A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406790.1:c.643A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406792.1:c.379A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406793.1:c.379A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406794.1:c.379A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.1828A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.1828A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.1828A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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 IIB (MEN2B)
Synonyms:
MEN IIB; NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS; MULTIPLE ENDOCRINE NEOPLASIA, TYPE III; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008082; MeSH: D018814; MedGen: C0025269; Orphanet: 653; OMIM: 162300
Name:
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (MEN2A)
Synonyms:
Multiple endocrine neoplasia, type 2a; 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
SCV001749766GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749766.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 07-24-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: May 1, 2024