NM_000492.4(CFTR):c.80G>A (p.Gly27Glu) AND Cystic fibrosis

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 15, 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:: RCV000577538.1

Allele description [Variation Report for NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)]

NM_000492.4(CFTR):c.80G>A (p.Gly27Glu)

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.80G>A (p.Gly27Glu)

HGVS:

NC_000007.14:g.117504279G>A
NG_016465.4:g.43496G>A
NM_000492.4:c.80G>AMANE SELECT
NP_000483.3:p.Gly27Glu
NP_000483.3:p.Gly27Glu
LRG_663t1:c.80G>A
LRG_663:g.43496G>A
LRG_663p1:p.Gly27Glu
NC_000007.13:g.117144333G>A
NM_000492.3:c.80G>A

Protein change:

G27E

Links:

dbSNP: rs397508797

NCBI 1000 Genomes Browser:

rs397508797

Molecular consequence:

NM_000492.4:c.80G>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

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LOC121546176 [Coregonus clupeaformis]
LOC121546176 [Coregonus clupeaformis]
Gene ID:121546176

Gene
LOC127157395 [Labeo rohita]
LOC127157395 [Labeo rohita]
Gene ID:127157395

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000679183	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 7516232, 20059485
SCV000793409	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Aug 15, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000679183

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000793409

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Aug 15, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan XW, Corey M, Tsui LC, Zielenski J, Durie P.

Clin Genet. 2010 May;77(5):464-73. doi: 10.1111/j.1399-0004.2009.01351.x. Epub 2009 Jan 6.

PubMed [citation]

PMID:: 20059485

A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.

Bienvenu T, Cazeneuve C, Beldjord C, Dusser D, Kaplan JC, Hubert D.

Hum Mol Genet. 1994 Feb;3(2):365-6. No abstract available.

PubMed [citation]

PMID:: 7516232

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679183.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	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, SCV000793409.1

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

Last Updated: Jun 17, 2024

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