NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 10, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000757090.4

Allele description [Variation Report for NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)]

NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)

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.4056G>T (p.Gln1352His)
HGVS:
  • NC_000007.14:g.117664780G>T
  • NG_016465.4:g.203997G>T
  • NM_000492.3:c.4056G>T
  • NM_000492.4:c.4056G>TMANE SELECT
  • NP_000483.3:p.Gln1352His
  • NP_000483.3:p.Gln1352His
  • LRG_663t1:c.4056G>T
  • LRG_663:g.203997G>T
  • LRG_663p1:p.Gln1352His
  • NC_000007.13:g.117304834G>T
Protein change:
Q1352H
Links:
dbSNP: rs113857788
NCBI 1000 Genomes Browser:
rs113857788
Molecular consequence:
  • NM_000492.3:c.4056G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000492.4:c.4056G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000888094Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(May 11, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001713444Mayo Clinic Laboratories, Mayo Cliniccriteria provided, single submitter
Uncertain significance
(Apr 10, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888094.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713444.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 10, 2021

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