NM_000492.4(CFTR):c.302T>G (p.Leu101Ter) AND Cystic fibrosis

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 5, 2022
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:: RCV000577461.2

Allele description [Variation Report for NM_000492.4(CFTR):c.302T>G (p.Leu101Ter)]

NM_000492.4(CFTR):c.302T>G (p.Leu101Ter)

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.302T>G (p.Leu101Ter)

Other names:

L101X

HGVS:

NC_000007.14:g.117530927T>G
NG_016465.4:g.70144T>G
NM_000492.4:c.302T>GMANE SELECT
NP_000483.3:p.Leu101Ter
NP_000483.3:p.Leu101Ter
LRG_663t1:c.302T>G
LRG_663:g.70144T>G
LRG_663p1:p.Leu101Ter
NC_000007.13:g.117170981T>G
NM_000492.3:c.302T>G

Protein change:

L101*

Links:

dbSNP: rs397508484

NCBI 1000 Genomes Browser:

rs397508484

Molecular consequence:

NM_000492.4:c.302T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Cystic fibrosis (CF)
Synonyms:: Mucoviscidosis
Identifiers:: MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700

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Mus musculus mitogen-activated protein kinase kinase kinase 12 (Map3k12), transc...
Mus musculus mitogen-activated protein kinase kinase kinase 12 (Map3k12), transcript variant 1, mRNA
gi|2295770311|ref|NM_001163643.2|

Nucleotide
Mus musculus chondroitin sulfate proteoglycan 5 (Cspg5), mRNA
Mus musculus chondroitin sulfate proteoglycan 5 (Cspg5), mRNA
gi|34328223|ref|NM_013884.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000679424	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002573963	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 5, 2022)	unknown	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000679424

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

literature only

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

SCV002573963

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 5, 2022)

unknown

curation

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	yes	3	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.

Ivady G, Madar L, Nagy B, Gonczi F, Ajzner E, Dzsudzsak E, Dvořáková L, Gombos E, Kappelmayer J, Macek M Jr, Balogh I.

J Cyst Fibros. 2011 May;10(3):217-20. doi: 10.1016/j.jcf.2010.12.009. Epub 2011 Feb 4.

PubMed [citation]

PMID:: 21296036

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

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679424.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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		not provided	not provided	not provided	not provided

From Institute of Human Genetics, University of Leipzig Medical Center, SCV002573963.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	curation	PubMed (1)

Description

This variant was identified in 3 unrelated patients with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1, PM3, PM2_SUP, PP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: Sep 24, 2022

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