NM_020975.6(RET):c.341G>A (p.Arg114His) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 5, 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:: RCV000121988.11

Allele description [Variation Report for NM_020975.6(RET):c.341G>A (p.Arg114His)]

NM_020975.6(RET):c.341G>A (p.Arg114His)

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.341G>A (p.Arg114His)

HGVS:

NC_000010.11:g.43102345G>A
NG_007489.1:g.30277G>A
NM_000323.2:c.341G>A
NM_001406743.1:c.341G>A
NM_001406744.1:c.341G>A
NM_001406759.1:c.341G>A
NM_001406760.1:c.341G>A
NM_001406763.1:c.341G>A
NM_001406765.1:c.341G>A
NM_001406769.1:c.341G>A
NM_001406771.1:c.341G>A
NM_001406772.1:c.341G>A
NM_001406773.1:c.341G>A
NM_001406779.1:c.341G>A
NM_001406780.1:c.341G>A
NM_001406781.1:c.341G>A
NM_001406782.1:c.341G>A
NM_001406785.1:c.341G>A
NM_001406787.1:c.341G>A
NM_020629.2:c.341G>A
NM_020630.7:c.341G>A
NM_020975.6:c.341G>AMANE SELECT
NP_000314.1:p.Arg114His
NP_001393672.1:p.Arg114His
NP_001393673.1:p.Arg114His
NP_001393688.1:p.Arg114His
NP_001393689.1:p.Arg114His
NP_001393692.1:p.Arg114His
NP_001393694.1:p.Arg114His
NP_001393698.1:p.Arg114His
NP_001393700.1:p.Arg114His
NP_001393701.1:p.Arg114His
NP_001393702.1:p.Arg114His
NP_001393708.1:p.Arg114His
NP_001393709.1:p.Arg114His
NP_001393710.1:p.Arg114His
NP_001393711.1:p.Arg114His
NP_001393714.1:p.Arg114His
NP_001393716.1:p.Arg114His
NP_065680.1:p.Arg114His
NP_065681.1:p.Arg114His
NP_065681.1:p.Arg114His
NP_065681.1:p.Arg114His
NP_066124.1:p.Arg114His
NP_066124.1:p.Arg114His
LRG_518t1:c.341G>A
LRG_518t2:c.341G>A
LRG_518:g.30277G>A
LRG_518p1:p.Arg114His
LRG_518p2:p.Arg114His
NC_000010.10:g.43597793G>A
NM_020630.4:c.341G>A
NM_020630.6:c.341G>A
NM_020975.4:c.341G>A
P07949:p.Arg114His
p.R114H

Protein change:

R114H; ARG114HIS

Links:

UniProtKB: P07949#VAR_018154; OMIM: 164761.0045; dbSNP: rs76397662

NCBI 1000 Genomes Browser:

rs76397662

Molecular consequence:

NM_000323.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000086199	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]
SCV000521034	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jan 5, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000086199

ITMI

no classification provided

not provided

germline

reference population

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

SCV000521034

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jan 5, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

Details of each submission

From ITMI, SCV000086199.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	not provided	not provided	not provided	reference population	PubMed (1)
2	African_European	not provided	not provided	not provided	reference population	PubMed (1)
3	Central_Asian	not provided	not provided	not provided	reference population	PubMed (1)
4	East_Asian	not provided	not provided	not provided	reference population	PubMed (1)
5	European	not provided	not provided	not provided	reference population	PubMed (1)
6	Hispanic	not provided	not provided	not provided	reference population	PubMed (1)
7	Whole_cohort	not provided	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0.0081	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.0007	not provided	not provided

From GeneDx, SCV000521034.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Nov 24, 2024

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