NM_020975.6(RET):c.1891G>A (p.Asp631Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 29, 2021
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:: RCV000564566.11

Allele description [Variation Report for NM_020975.6(RET):c.1891G>A (p.Asp631Asn)]

NM_020975.6(RET):c.1891G>A (p.Asp631Asn)

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.1891G>A (p.Asp631Asn)

HGVS:

NC_000010.11:g.43114491G>A
NG_007489.1:g.42423G>A
NM_000323.2:c.1891G>A
NM_001355216.2:c.1129G>A
NM_001406743.1:c.1891G>A
NM_001406744.1:c.1891G>A
NM_001406759.1:c.1891G>A
NM_001406760.1:c.1891G>A
NM_001406761.1:c.1762G>A
NM_001406762.1:c.1762G>A
NM_001406764.1:c.1762G>A
NM_001406766.1:c.1603G>A
NM_001406767.1:c.1603G>A
NM_001406769.1:c.1495G>A
NM_001406770.1:c.1603G>A
NM_001406771.1:c.1453G>A
NM_001406772.1:c.1495G>A
NM_001406773.1:c.1453G>A
NM_001406774.1:c.1366G>A
NM_001406775.1:c.1165G>A
NM_001406776.1:c.1165G>A
NM_001406777.1:c.1165G>A
NM_001406778.1:c.1165G>A
NM_001406779.1:c.994G>A
NM_001406780.1:c.994G>A
NM_001406781.1:c.994G>A
NM_001406782.1:c.994G>A
NM_001406783.1:c.865G>A
NM_001406784.1:c.901G>A
NM_001406785.1:c.874G>A
NM_001406786.1:c.865G>A
NM_001406788.1:c.706G>A
NM_001406789.1:c.706G>A
NM_001406790.1:c.706G>A
NM_001406791.1:c.586G>A
NM_001406792.1:c.442G>A
NM_001406793.1:c.442G>A
NM_001406794.1:c.442G>A
NM_020629.2:c.1891G>A
NM_020630.7:c.1891G>A
NM_020975.6:c.1891G>AMANE SELECT
NP_000314.1:p.Asp631Asn
NP_001342145.1:p.Asp377Asn
NP_001342145.1:p.Asp377Asn
NP_001393672.1:p.Asp631Asn
NP_001393673.1:p.Asp631Asn
NP_001393688.1:p.Asp631Asn
NP_001393689.1:p.Asp631Asn
NP_001393690.1:p.Asp588Asn
NP_001393691.1:p.Asp588Asn
NP_001393693.1:p.Asp588Asn
NP_001393695.1:p.Asp535Asn
NP_001393696.1:p.Asp535Asn
NP_001393698.1:p.Asp499Asn
NP_001393699.1:p.Asp535Asn
NP_001393700.1:p.Asp485Asn
NP_001393701.1:p.Asp499Asn
NP_001393702.1:p.Asp485Asn
NP_001393703.1:p.Asp456Asn
NP_001393704.1:p.Asp389Asn
NP_001393705.1:p.Asp389Asn
NP_001393706.1:p.Asp389Asn
NP_001393707.1:p.Asp389Asn
NP_001393708.1:p.Asp332Asn
NP_001393709.1:p.Asp332Asn
NP_001393710.1:p.Asp332Asn
NP_001393711.1:p.Asp332Asn
NP_001393712.1:p.Asp289Asn
NP_001393713.1:p.Asp301Asn
NP_001393714.1:p.Asp292Asn
NP_001393715.1:p.Asp289Asn
NP_001393717.1:p.Asp236Asn
NP_001393718.1:p.Asp236Asn
NP_001393719.1:p.Asp236Asn
NP_001393720.1:p.Asp196Asn
NP_001393721.1:p.Asp148Asn
NP_001393722.1:p.Asp148Asn
NP_001393723.1:p.Asp148Asn
NP_065680.1:p.Asp631Asn
NP_065681.1:p.Asp631Asn
NP_065681.1:p.Asp631Asn
NP_065681.1:p.Asp631Asn
NP_066124.1:p.Asp631Asn
NP_066124.1:p.Asp631Asn
LRG_518t1:c.1891G>A
LRG_518t2:c.1891G>A
LRG_518:g.42423G>A
LRG_518p1:p.Asp631Asn
LRG_518p2:p.Asp631Asn
NC_000010.10:g.43609939G>A
NM_001355216.1:c.1129G>A
NM_020630.4:c.1891G>A
NM_020630.5:c.1891G>A
NM_020630.6:c.1891G>A
NM_020975.4:c.1891G>A

Protein change:

D148N

Links:

dbSNP: rs377767406

NCBI 1000 Genomes Browser:

rs377767406

Molecular consequence:

NM_000323.2:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001355216.2:c.1129G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.1603G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.1603G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.1495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.1603G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.1453G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.1495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.1453G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.865G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406784.1:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.874G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.865G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.706G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.706G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.706G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406792.1:c.442G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406793.1:c.442G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406794.1:c.442G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.1891G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000674829	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Nov 29, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 10049754, 25810047, 30927507 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000674829

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Nov 29, 2021)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mechanism of Ret activation by a mutation at aspartic acid 631 identified in sporadic pheochromocytoma.

Asai N, Iwashita T, Murakami H, Takanari H, Ohmori K, Ichihara M, Takahashi M.

Biochem Biophys Res Commun. 1999 Feb 24;255(3):587-90.

PubMed [citation]

PMID:: 10049754

Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Wells SA Jr, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF, Lee N, Machens A, Moley JF, Pacini F, Raue F, Frank-Raue K, Robinson B, Rosenthal MS, Santoro M, Schlumberger M, Shah M, Waguespack SG; American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma.

Thyroid. 2015 Jun;25(6):567-610. doi: 10.1089/thy.2014.0335. Review.

PubMed [citation]

PMID:: 25810047
PMCID:: PMC4490627

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000674829.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine