NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Dec 24, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000079009.26

Allele description [Variation Report for NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)]

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000110878	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Aug 6, 2012)	germline	clinical testing	Citation Link,
SCV000304500	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001469505	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (Dec 24, 2019)	unknown	clinical testing	PubMed (8) [See all records that cite these PMIDs] 11242048, 16822950, 15017334, 15287992, 12394343, 23670503, 12172395, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000110878

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Aug 6, 2012)

germline

clinical testing

Citation Link,

SCV000304500

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001469505

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Benign
(Dec 24, 2019)

unknown

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

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	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.

Choi JY, Muallem D, Kiselyov K, Lee MG, Thomas PJ, Muallem S.

Nature. 2001 Mar 1;410(6824):94-7.

PubMed [citation]

PMID:: 11242048
PMCID:: PMC3943212

See all PubMed Citations (9)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000110878.8

#	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	not provided	not provided	not provided		1	not provided	not provided	not provided

From PreventionGenetics, part of Exact Sciences, SCV000304500.1

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

#	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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469505.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

#	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: Nov 24, 2024

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