NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) AND Inborn genetic diseases

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Germline classification:: Benign (1 submission)
Last evaluated:: Mar 13, 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:: RCV001022482.3

Allele description

NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)

Gene:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)

Other names:

NM_000492.3(CFTR):c.443T>C(p.Ile148Thr)

HGVS:

NC_000007.14:g.117531068T>C
NG_016465.4:g.70285T>C
NM_000492.4:c.443T>CMANE SELECT
NP_000483.3:p.Ile148Thr
NP_000483.3:p.Ile148Thr
LRG_663t1:c.443T>C
LRG_663:g.70285T>C
LRG_663p1:p.Ile148Thr
NC_000007.13:g.117171122T>C
NM_000492.3:c.443T>C
P13569:p.Ile148Thr
c.443T>C

Protein change:

I148T

Links:

Cystic Fibrosis Mutation Database: 105; Genetic Testing Registry (GTR): GTR000257096; UniProtKB: P13569#VAR_000128; dbSNP: rs35516286

NCBI 1000 Genomes Browser:

rs35516286

Molecular consequence:

NM_000492.4:c.443T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001184227	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Benign (Mar 13, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001184227

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Benign
(Mar 13, 2015)

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 Ambry Genetics, SCV001184227.2

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

Description

This alteration is classified as benign based on a combination of the following: 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	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 19, 2022

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