NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND Congenital diaphragmatic hernia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 3, 2015
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:: RCV000203290.9

Allele description [Variation Report for NM_000245.4(MET):c.2975C>T (p.Thr992Ile)]

NM_000245.4(MET):c.2975C>T (p.Thr992Ile)

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.2975C>T (p.Thr992Ile)

HGVS:

NC_000007.14:g.116771936C>T
NG_008996.1:g.104532C>T
NM_000245.4:c.2975C>TMANE SELECT
NM_001127500.3:c.3029C>T
NM_001324402.2:c.1685C>T
NP_000236.2:p.Thr992Ile
NP_001120972.1:p.Thr1010Ile
NP_001120972.1:p.Thr1010Ile
NP_001311331.1:p.Thr562Ile
LRG_662t1:c.3029C>T
LRG_662:g.104532C>T
LRG_662p1:p.Thr1010Ile
NC_000007.13:g.116411990C>T
NM_000245.2:c.2975C>T
NM_001127500.1:c.3029C>T
NM_001127500.2:c.3029C>T
p.T1010I

Protein change:

T1010I

Links:

dbSNP: rs56391007

NCBI 1000 Genomes Browser:

rs56391007

Molecular consequence:

NM_000245.4:c.2975C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127500.3:c.3029C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001324402.2:c.1685C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital diaphragmatic hernia
Synonyms:: DIH; Congenital diaphragmatic defect; Unilateral agenesis of diaphragm; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0005711; MeSH: D065630; MedGen: C0235833; Orphanet: 2140; OMIM: PS142340; Human Phenotype Ontology: HP:0000776

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000258327	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (Beck et al. (Am J Med Genet A 2015))	Uncertain significance (Mar 3, 2015)	germline	research	PubMed (3) [See all records that cite these PMIDs] 23806086, 24088041, 25736269

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000258327

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

criteria provided, single submitter

(Beck et al. (Am J Med Genet A 2015))

Uncertain significance
(Mar 3, 2015)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	2	1	not provided	not provided	yes	research

Citations

PubMed

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA.

Genome Med. 2013;5(6):57. doi: 10.1186/gm461.

PubMed [citation]

PMID:: 23806086
PMCID:: PMC3706849

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, et al.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

PubMed [citation]

PMID:: 24088041
PMCID:: PMC4211433

See all PubMed Citations (3)

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000258327.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	2	not provided	yes	research	PubMed (3)

Description

It is unclear whether these changes, alone or in aggregate, are contributing to the development of CDH in this family.

#	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	1	not provided

Last Updated: Oct 13, 2024

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