NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) AND not specified

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Aug 16, 2017
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:: RCV000116686.30

Allele description [Variation Report for NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)]

NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)

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.224G>A (p.Arg75Gln)

HGVS:

NC_000007.14:g.117509093G>A
NG_016465.4:g.48310G>A
NG_062452.1:g.731G>A
NM_000492.4:c.224G>AMANE SELECT
NP_000483.3:p.Arg75Gln
LRG_663t1:c.224G>A
LRG_663:g.48310G>A
LRG_663p1:p.Arg75Gln
NC_000007.13:g.117149147G>A
NM_000492.3:c.224G>A
P13569:p.Arg75Gln

Protein change:

R75Q

Links:

UniProtKB: P13569#VAR_000111; dbSNP: rs1800076

NCBI 1000 Genomes Browser:

rs1800076

Molecular consequence:

NM_000492.4:c.224G>A - 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
SCV000110853	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Aug 16, 2017)	germline	clinical testing	Citation Link,
SCV000150650	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jun 3, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000204215	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Feb 28, 2014)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 9797105, 10950058, 16741161, 20977904, 22427236, 24451227, 15463907, 24033266
SCV000304479	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	clinical testing	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	unknown	102	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	8	8	not provided	not provided	not provided	clinical testing

Citations

PubMed

Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations.

Jarvi K, McCallum S, Zielenski J, Durie P, Tullis E, Wilchanski M, Margolis M, Asch M, Ginzburg B, Martin S, Buckspan MB, Tsui LC.

Fertil Steril. 1998 Oct;70(4):724-8.

PubMed [citation]

PMID:: 9797105

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis.

Ockenga J, Stuhrmann M, Ballmann M, Teich N, Keim V, Dörk T, Manns MP.

Am J Gastroenterol. 2000 Aug;95(8):2061-7.

PubMed [citation]

PMID:: 10950058

See all PubMed Citations (9)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000110853.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	102	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		102	not provided	not provided	not provided

From Genetic Services Laboratory, University of Chicago, SCV000150650.2

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000204215.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	8	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	germline	not provided	not provided	not provided	not provided		8	not provided	8	not provided

From PreventionGenetics, part of Exact Sciences, SCV000304479.1

#	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

Last Updated: Jun 2, 2024

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