U.S. flag

An official website of the United States government

NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 16, 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:
RCV000587359.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser)]

NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser)

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.1495C>T (p.Pro499Ser)
HGVS:
  • NC_000007.14:g.117559566C>T
  • NG_016465.4:g.98783C>T
  • NM_000492.4:c.1495C>TMANE SELECT
  • NP_000483.3:p.Pro499Ser
  • NP_000483.3:p.Pro499Ser
  • LRG_663t1:c.1495C>T
  • LRG_663:g.98783C>T
  • LRG_663p1:p.Pro499Ser
  • NC_000007.13:g.117199620C>T
  • NM_000492.3:c.1495C>T
  • NM_000492.4:c.1495C>T
Protein change:
P499S
Links:
dbSNP: rs397508219
NCBI 1000 Genomes Browser:
rs397508219
Molecular consequence:
  • NM_000492.4:c.1495C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000696846Women's Health and Genetics/Laboratory Corporation of America, LabCorp
    criteria provided, single submitter

    (LabCorp Variant Classification Summary - May 2015)    		Uncertain significance
    (Nov 16, 2016)     		germlineclinical testing

    LabCorp Variant Classification Summary - May 2015.docx

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000696846.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided

    Description

    Variant summary: The CFTR c.1495C>T (p.Pro499Ser) variant involves the alteration of a conserved nucleotide. 4/5 in silico tools predict a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121330 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 classified as a variant of uncertain significance (VUS) until additional information becomes available.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Nov 3, 2024