NM_000492.4(CFTR):c.388C>G (p.Leu130Val) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Sep 11, 2023
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:: RCV002477158.2

Allele description [Variation Report for NM_000492.4(CFTR):c.388C>G (p.Leu130Val)]

NM_000492.4(CFTR):c.388C>G (p.Leu130Val)

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.388C>G (p.Leu130Val)

HGVS:

NC_000007.14:g.117531013C>G
NG_016465.4:g.70230C>G
NM_000492.4:c.388C>GMANE SELECT
NP_000483.3:p.Leu130Val
NP_000483.3:p.Leu130Val
LRG_663t1:c.388C>G
LRG_663:g.70230C>G
LRG_663p1:p.Leu130Val
NC_000007.13:g.117171067C>G
NM_000492.3:c.388C>G

Protein change:

L130V

Links:

dbSNP: rs397508632

NCBI 1000 Genomes Browser:

rs397508632

Molecular consequence:

NM_000492.4:c.388C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Pseudomonas aeruginosa strain 10 Flagellin (fliC) gene, partial cds
Pseudomonas aeruginosa strain 10 Flagellin (fliC) gene, partial cds
gi|2174817093|gb|OL354415.1|

Nucleotide
ALS2 [Puma concolor]
ALS2 [Puma concolor]
Gene ID:112868570

Gene
AGENCOURT_14235538 NICHD_XGC_Brn1 Xenopus laevis cDNA clone IMAGE:6956535 3', mR...
AGENCOURT_14235538 NICHD_XGC_Brn1 Xenopus laevis cDNA clone IMAGE:6956535 3', mRNA sequence
gi|31134403|gnl|dbEST|18330868|gb|C 92.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002774539	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Jul 1, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004562596	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Uncertain significance (Sep 11, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002774539

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Jul 1, 2021)

unknown

clinical testing

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

SCV004562596

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Uncertain significance
(Sep 11, 2023)

germline

clinical testing

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002774539.1

#	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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004562596.1

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

Description

The CFTR c.388C>G; p.Leu130Val variant (rs397508632), is reported in one patient with borderline sweat chloride levels, but a second CFTR variant was not identified (see link to database). This variant is also reported in ClinVar (Variation ID: 53842). It is observed in the general population with an overall allele frequency of 0.004% (11/250878 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.619). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Cystic Fibrosis Mutation Database: http://www.genet.sickkids.on.ca/MutationDetailPage.external?sp=1693

#	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

ClinVar

Relating variation to medicine