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NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 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:
RCV000588431.1

Allele description [Variation Report for NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val)]

NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val)

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.3767C>T (p.Ala1256Val)
HGVS:
  • NC_000007.14:g.117642487C>T
  • NG_016465.4:g.181704C>T
  • NM_000492.4:c.3767C>TMANE SELECT
  • NP_000483.3:p.Ala1256Val
  • NP_000483.3:p.Ala1256Val
  • LRG_663t1:c.3767C>T
  • LRG_663:g.181704C>T
  • LRG_663p1:p.Ala1256Val
  • NC_000007.13:g.117282541C>T
  • NM_000492.3:c.3767C>T
Protein change:
A1256V
Links:
dbSNP: rs773852510
NCBI 1000 Genomes Browser:
rs773852510
Molecular consequence:
  • NM_000492.4:c.3767C>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
SCV000696990Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 25, 2016) 		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, SCV000696990.1

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

Description

Variant summary: The c.3767C>T variant involves the alteration of a conserved nucleotide and 5/5 in silico tools predict a damaging outcome. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.002% which does not exceed the maximal expected allele frequency for a pathogenic variant in CFTR (1.3%). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical 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 was 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: May 7, 2024