NM_000245.4(MET):c.2191C>A (p.Arg731=) AND Papillary renal cell carcinoma type 1

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 8, 2024
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:: RCV005249229.1

Allele description [Variation Report for NM_000245.4(MET):c.2191C>A (p.Arg731=)]

NM_000245.4(MET):c.2191C>A (p.Arg731=)

Gene:

MET:MET proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000245.4(MET):c.2191C>A (p.Arg731=)

HGVS:

NC_000007.14:g.116758547C>A
NG_008996.1:g.91143C>A
NM_000245.4:c.2191C>AMANE SELECT
NM_001127500.3:c.2191C>A
NM_001324401.3:c.2191C>A
NM_001324402.2:c.901C>A
NP_000236.2:p.Arg731=
NP_001120972.1:p.Arg731=
NP_001311330.1:p.Arg731=
NP_001311331.1:p.Arg301=
LRG_662t1:c.2191C>A
LRG_662:g.91143C>A
NC_000007.13:g.116398601C>A
NM_001127500.1:c.2191C>A

Links:

dbSNP: rs377336878

NCBI 1000 Genomes Browser:

rs377336878

Molecular consequence:

NM_000245.4:c.2191C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001127500.3:c.2191C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001324401.3:c.2191C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001324402.2:c.901C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Papillary renal cell carcinoma type 1 (RCCP1)
Synonyms:: RENAL CELL CARCINOMA, PAPILLARY, 1, SOMATIC; Renal adenocarcinoma; Renal cell carcinoma 1; See all synonyms [MedGen]
Identifiers:: MedGen: C1336839; Orphanet: 47044; OMIM: 605074; Human Phenotype Ontology: HP:0011797

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005896565	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Benign (Nov 8, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005896565

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Benign
(Nov 8, 2024)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV005896565.1

#	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 benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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

Last Updated: May 16, 2025

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