NM_000492.4(CFTR):c.169T>C (p.Trp57Arg) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 10, 2019
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:: RCV001269511.2

Allele description [Variation Report for NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)]

NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC113664106:CFTR intron 2 DNase I hypersensitive site [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)

HGVS:

NC_000007.14:g.117509038T>C
NG_016465.4:g.48255T>C
NG_062452.1:g.676T>C
NM_000492.4:c.169T>CMANE SELECT
NP_000483.3:p.Trp57Arg
NP_000483.3:p.Trp57Arg
LRG_663t1:c.169T>C
LRG_663:g.48255T>C
LRG_663p1:p.Trp57Arg
NC_000007.13:g.117149092T>C
NM_000492.3:c.169T>C

Protein change:

W57R

Links:

dbSNP: rs397508272

NCBI 1000 Genomes Browser:

rs397508272

Molecular consequence:

NM_000492.4:c.169T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001449549	Clinical Genetics and Genomics, Karolinska University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 10, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001449549

Clinical Genetics and Genomics, Karolinska University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 10, 2019)

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	yes	2	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

Details of each submission

From Clinical Genetics and Genomics, Karolinska University Hospital, SCV001449549.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: May 1, 2024

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