NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 7, 2016
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:: RCV000586452.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys)]

NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys)

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys)

HGVS:

NC_000007.14:g.117559615A>G
NG_016465.4:g.98832A>G
NM_000492.4:c.1544A>GMANE SELECT
NP_000483.3:p.Tyr515Cys
NP_000483.3:p.Tyr515Cys
LRG_663t1:c.1544A>G
LRG_663:g.98832A>G
LRG_663p1:p.Tyr515Cys
NC_000007.13:g.117199669A>G
NM_000492.3:c.1544A>G

Protein change:

Y515C

Links:

dbSNP: rs1554384431

NCBI 1000 Genomes Browser:

rs1554384431

Molecular consequence:

NM_000492.4:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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superoxide dismutase [Mn], mitochondrial isoform B [Homo sapiens]
superoxide dismutase [Mn], mitochondrial isoform B [Homo sapiens]
gi|1018191630|ref|NP_001309743.1|

Protein
RecName: Full=Signal peptidase complex catalytic subunit SEC11C; AltName: Full=M...
RecName: Full=Signal peptidase complex catalytic subunit SEC11C; AltName: Full=Microsomal signal peptidase 21 kDa subunit; Short=SPase 21 kDa subunit; AltName: Full=SEC11 homolog C; AltName: Full=SEC11-like protein 3; AltName: Full=SPC21
gi|17367427|sp|Q9WTR7.3|SC11C_RAT

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000696848	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Sep 7, 2016)	germline	clinical testing	LabCorp Variant Classification Summary - May 2015.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000696848

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Sep 7, 2016)

germline

clinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

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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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000696848.1

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

Description

Variant summary: The CFTR c.1544A>G (p.Tyr515Cys) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant is located in the ABC transporter-like domain and the P-loop containing nucleoside triphosphate hydrolase domain of the protein (InterPro). Structural/biochemical analysis indicate that Tyr515 residue is phosphorylated in vivo (PMID: 24178769). This variant is absent in 121248 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is currently classified as a variant of uncertain significance (VUS) until additional information becomes available.

#	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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