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NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 17, 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:
RCV000586370.1

Allele description [Variation Report for NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser)]

NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser)

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.2878C>T (p.Pro960Ser)
HGVS:
  • NC_000007.14:g.117603752C>T
  • NG_016465.4:g.142969C>T
  • NM_000492.4:c.2878C>TMANE SELECT
  • NP_000483.3:p.Pro960Ser
  • NP_000483.3:p.Pro960Ser
  • LRG_663t1:c.2878C>T
  • LRG_663:g.142969C>T
  • LRG_663p1:p.Pro960Ser
  • NC_000007.13:g.117243806C>T
  • NM_000492.3:c.2878C>T
Protein change:
P960S
Links:
dbSNP: rs185397588
NCBI 1000 Genomes Browser:
rs185397588
Molecular consequence:
  • NM_000492.4:c.2878C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000696931Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 17, 2017) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

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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, SCV000696931.1

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

Description

Variant summary: The CFTR c.2878C>T (p.Pro960Ser) variant involves the alteration of a conserved nucleotide, is predicted to be damaging by 5/5 in silico tools and is located in the ABC transporter type 1, transmembrane domain (InterPro). This variant was found in 2/121298 control chromosomes from ExAC at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). 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. Similar variants at this region such as M952I/T, H954P, A959V, M961I, L967S and G970R/D/S have been reported in association with CF or CFTRD (ref. HGMD), highlighting the importance of this region in protein function. 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: Sep 29, 2024