NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 22, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000378943.12

Allele description [Variation Report for NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)]

NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)

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.2042A>T (p.Glu681Val)

HGVS:

NC_000007.14:g.117592209A>T
NG_016465.4:g.131426A>T
NM_000492.4:c.2042A>TMANE SELECT
NP_000483.3:p.Glu681Val
NP_000483.3:p.Glu681Val
LRG_663t1:c.2042A>T
LRG_663:g.131426A>T
LRG_663p1:p.Glu681Val
NC_000007.13:g.117232263A>T
NM_000492.3:c.2042A>T
NM_000492.4:c.2042A>T

Protein change:

E681V

Links:

dbSNP: rs201295415

NCBI 1000 Genomes Browser:

rs201295415

Molecular consequence:

NM_000492.4:c.2042A>T - 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
SCV000340908	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Mar 25, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV002047310	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Apr 22, 2021)	unknown	clinical testing	PubMed (7) [See all records that cite these PMIDs] 30811104, 29997923, 29173301, 23514810, 18703788, 19858235, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000340908

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Mar 25, 2016)

germline

clinical testing

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

Citation Link,

SCV002047310

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Apr 22, 2021)

unknown

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

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	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles.

Yuan P, Liang ZK, Liang H, Zheng LY, Li D, Li J, Zhang J, Tian J, Lai LH, Zhang K, He ZY, Zhang QX, Wang WJ.

Andrology. 2019 May;7(3):329-340. doi: 10.1111/andr.12592. Epub 2019 Feb 27.

PubMed [citation]

PMID:: 30811104

Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.

Guan WJ, Li JC, Liu F, Zhou J, Liu YP, Ling C, Gao YH, Li HM, Yuan JJ, Huang Y, Chen CL, Chen RC, Zhang X, Zhong NS.

J Thorac Dis. 2018 May;10(5):2618-2630. doi: 10.21037/jtd.2018.04.134.

PubMed [citation]

PMID:: 29997923
PMCID:: PMC6006054

See all PubMed Citations (7)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000340908.4

#	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	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002047310.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

#	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: Oct 26, 2024

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