NM_000492.4(CFTR):c.147A>G (p.Leu49=) AND CFTR-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 20, 2019
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:: RCV001027901.1

Allele description [Variation Report for NM_000492.4(CFTR):c.147A>G (p.Leu49=)]

NM_000492.4(CFTR):c.147A>G (p.Leu49=)

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.147A>G (p.Leu49=)

HGVS:

NC_000007.14:g.117504346A>G
NG_016465.4:g.43563A>G
NM_000492.4:c.147A>GMANE SELECT
NP_000483.3:p.Leu49=
LRG_663t1:c.147A>G
LRG_663:g.43563A>G
NC_000007.13:g.117144400A>G
NM_000492.3:c.147A>G

Links:

dbSNP: rs140444668

NCBI 1000 Genomes Browser:

rs140444668

Molecular consequence:

NM_000492.4:c.147A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Fungal sp. agrD451 internal transcribed spacer 1, partial sequence; 5.8S ribosom...
Fungal sp. agrD451 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|358242104|gb|JN053168.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001190624	Natera, Inc.	no assertion criteria provided	Uncertain significance (May 20, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001190624

Natera, Inc.

no assertion criteria provided

Uncertain significance
(May 20, 2019)

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., SCV001190624.1

#	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: Sep 29, 2024

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