NM_000492.4(CFTR):c.561C>A (p.Asn187Lys) AND Cystic fibrosis

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 2, 2017
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:: RCV000576994.1

Allele description [Variation Report for NM_000492.4(CFTR):c.561C>A (p.Asn187Lys)]

NM_000492.4(CFTR):c.561C>A (p.Asn187Lys)

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.561C>A (p.Asn187Lys)

HGVS:

NC_000007.14:g.117534347C>A
NG_016465.4:g.73564C>A
NM_000492.4:c.561C>AMANE SELECT
NP_000483.3:p.Asn187Lys
NP_000483.3:p.Asn187Lys
LRG_663t1:c.561C>A
LRG_663:g.73564C>A
LRG_663p1:p.Asn187Lys
NC_000007.13:g.117174401C>A
NM_000492.3:c.561C>A

Protein change:

N187K

Links:

dbSNP: rs397508754

NCBI 1000 Genomes Browser:

rs397508754

Molecular consequence:

NM_000492.4:c.561C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

cytochrome c oxidase subunit II (mitochondrion) [Oryzias melastigma]
cytochrome c oxidase subunit II (mitochondrion) [Oryzias melastigma]
gi|403531539|ref|YP_006665912.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000679167	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]
SCV000792950	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Aug 2, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000679167

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]

SCV000792950

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Aug 2, 2017)

unknown

clinical testing

Citation Link

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

Citations

PubMed

Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients.

Gaia E, Salacone P, Gallo M, Promis GG, Brusco A, Bancone C, Carlo A.

Dig Dis Sci. 2002 Nov;47(11):2416-21.

PubMed [citation]

PMID:: 12452372

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679167.1

#	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 Counsyl, SCV000792950.1

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

Last Updated: Jan 6, 2024

ClinVar

Relating variation to medicine