NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr) AND CFTR-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 25, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001829619.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr)]

NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr)

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.1187A>C (p.Asn396Thr)

HGVS:

NC_000007.14:g.117542086A>C
NG_016465.4:g.81303A>C
NM_000492.4:c.1187A>CMANE SELECT
NP_000483.3:p.Asn396Thr
NP_000483.3:p.Asn396Thr
LRG_663t1:c.1187A>C
LRG_663:g.81303A>C
LRG_663p1:p.Asn396Thr
NC_000007.13:g.117182140A>C
NM_000492.3:c.1187A>C
NM_000492.4:c.1187A>C

Protein change:

N396T

Links:

dbSNP: rs1396443734

NCBI 1000 Genomes Browser:

rs1396443734

Molecular consequence:

NM_000492.4:c.1187A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: CFTR-related disorder (CFTR-RD)
Synonyms:: CFTR-related disorders; CFTR-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002080551	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jul 25, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002080551

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jul 25, 2018)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002080551.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 19, 2024

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