NM_000245.4(MET):c.406G>A (p.Val136Ile) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Sep 30, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV000130870.16

Allele description

NM_000245.4(MET):c.406G>A (p.Val136Ile)

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.406G>A (p.Val136Ile)

HGVS:

NC_000007.14:g.116699490G>A
NG_008996.1:g.32086G>A
NM_000245.4:c.406G>AMANE SELECT
NM_001127500.3:c.406G>A
NM_001324401.3:c.406G>A
NM_001324402.2:c.-91+26913G>A
NP_000236.2:p.Val136Ile
NP_001120972.1:p.Val136Ile
NP_001311330.1:p.Val136Ile
LRG_662t1:c.406G>A
LRG_662:g.32086G>A
NC_000007.13:g.116339544G>A
NM_000245.3:c.406G>A
NM_000245.4:c.406G>A
NM_001127500.1:c.406G>A
NM_001127500.2:c.406G>A
p.V136I

Protein change:

V136I

Links:

dbSNP: rs199701987

NCBI 1000 Genomes Browser:

rs199701987

Molecular consequence:

NM_001324402.2:c.-91+26913G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000245.4:c.406G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127500.3:c.406G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001324401.3:c.406G>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

Recent activity

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inter-alpha-trypsin inhibitor heavy chain H1 isoform b [Homo sapiens]
inter-alpha-trypsin inhibitor heavy chain H1 isoform b [Homo sapiens]
gi|261878614|ref|NP_001159906.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000185771	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Benign (Sep 30, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28259294, 29641532 Citation Link,
SCV002532161	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Uncertain significance (Nov 15, 2021)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 21970370, 21774103 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000185771

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Benign
(Sep 30, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV002532161

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Uncertain significance
(Nov 15, 2021)

germline

curation

PubMed (2)
[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, curation

Citations

PubMed

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000185771.8

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

Description

This alteration is classified as 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

From Sema4, Sema4, SCV002532161.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

#	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: Sep 16, 2024

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