NM_000660.7(TGFB1):c.399G>A (p.Met133Ile) AND Inflammatory bowel disease, immunodeficiency, and encephalopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 26, 2020
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:: RCV001784099.1

Allele description [Variation Report for NM_000660.7(TGFB1):c.399G>A (p.Met133Ile)]

NM_000660.7(TGFB1):c.399G>A (p.Met133Ile)

Gene:

TGFB1:transforming growth factor beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000660.7(TGFB1):c.399G>A (p.Met133Ile)

HGVS:

NC_000019.10:g.41348412C>T
NG_013364.1:g.10515G>A
NM_000660.7:c.399G>AMANE SELECT
NP_000651.3:p.Met133Ile
NC_000019.9:g.41854317C>T
NM_000660.6:c.399G>A

Protein change:

M133I

Links:

dbSNP: rs201567874

NCBI 1000 Genomes Browser:

rs201567874

Molecular consequence:

NM_000660.7:c.399G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inflammatory bowel disease, immunodeficiency, and encephalopathy
Identifiers:: MONDO: MONDO:0032601; MedGen: C4748708; OMIM: 618213

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002025602	New York Genome Center - CSER-NYCKidSeq	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Uncertain significance (Apr 26, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002025602

New York Genome Center - CSER-NYCKidSeq

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Uncertain significance
(Apr 26, 2020)

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	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002025602.1

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

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

Last Updated: Sep 29, 2024

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