NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) AND CFTR-related disorder

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 27, 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:: RCV001158768.13

Allele description [Variation Report for NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)]

NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)

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.2735C>T (p.Ser912Leu)

HGVS:

NC_000007.14:g.117603609C>T
NG_016465.4:g.142826C>T
NM_000492.4:c.2735C>TMANE SELECT
NP_000483.3:p.Ser912Leu
NP_000483.3:p.Ser912Leu
LRG_663t1:c.2735C>T
LRG_663:g.142826C>T
LRG_663p1:p.Ser912Leu
NC_000007.13:g.117243663C>T
NM_000492.3:c.2735C>T
P13569:p.Ser912Leu

Protein change:

S912L; SER912LEU

Links:

UniProtKB: P13569#VAR_000222; OMIM: 602421.0100; OMIM: 602421.0135; dbSNP: rs121909034

NCBI 1000 Genomes Browser:

rs121909034

Molecular consequence:

NM_000492.4:c.2735C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Igkv9-129 immunoglobulin kappa variable 9-129 [Mus musculus]
Igkv9-129 immunoglobulin kappa variable 9-129 [Mus musculus]
Gene ID:692182

Gene
Igkv9-129 AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001320423	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 24586523, 12007216, 19885835, 18703788, 25910067, 7522211, 16189704, 15744523 Citation Link,
SCV004721021	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Mar 30, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001320423

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link,

SCV004721021

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Mar 30, 2021)

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

Citations

PubMed

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Ziętkiewicz E, Rutkiewicz E, Pogorzelski A, Klimek B, Voelkel K, Witt M.

PLoS One. 2014;9(2):e89094. doi: 10.1371/journal.pone.0089094. Erratum in: PLoS One. 2014;9(8):e105738.

PubMed [citation]

PMID:: 24586523
PMCID:: PMC3935850

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

Bobadilla JL, Macek M Jr, Fine JP, Farrell PM.

Hum Mutat. 2002 Jun;19(6):575-606. Review.

PubMed [citation]

PMID:: 12007216

See all PubMed Citations (8)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001320423.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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

From PreventionGenetics, part of Exact Sciences, SCV004721021.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Nov 3, 2024

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