NM_001393578.1(MRGPRX1):c.598A>G (p.Ile200Val) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 1, 2023
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:: RCV003409285.9

Allele description

NM_001393578.1(MRGPRX1):c.598A>G (p.Ile200Val)

Gene:

MRGPRX1:MAS related GPR family member X1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_001393578.1(MRGPRX1):c.598A>G (p.Ile200Val)

HGVS:

NC_000011.10:g.18934187T>C
NM_001393578.1:c.598A>GMANE SELECT
NM_147199.4:c.598A>G
NP_001380507.1:p.Ile200Val
NP_671732.3:p.Ile200Val
NC_000011.9:g.18955734T>C

Protein change:

I200V

Molecular consequence:

NM_001393578.1:c.598A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_147199.4:c.598A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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SAMN08152878 (1)
SRA
protein unc-119 homolog A isoform b [Homo sapiens]
protein unc-119 homolog A isoform b [Homo sapiens]
gi|16936535|ref|NP_473376.1|

Protein
Homo sapiens unc-119 lipid binding chaperone (UNC119), transcript variant 2, mRN...
Homo sapiens unc-119 lipid binding chaperone (UNC119), transcript variant 2, mRNA
gi|224809227|ref|NM_054035.2|

Nucleotide
Tuber borchii isolate Tbo2 small subunit ribosomal RNA gene, partial sequence; i...
Tuber borchii isolate Tbo2 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|2530764698|gb|OR228980.1|

Nucleotide
PREDICTED: Megalobrama amblycephala heterogeneous nuclear ribonucleoprotein R-li...
PREDICTED: Megalobrama amblycephala heterogeneous nuclear ribonucleoprotein R-like (LOC125276284), mRNA
gi|2238884949|ref|XM_048203785.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004136099	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Apr 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004136099

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Apr 1, 2023)

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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004136099.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

MRGPRX1: BP4, BS2

#	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		2	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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