• replaced

NM_000492.3(CFTR):c.3302T>A (p.Met1101Lys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 30, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000078996.3

Allele description

NM_000492.3(CFTR):c.3302T>A (p.Met1101Lys)

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.3302T>A (p.Met1101Lys)
Other names:
CFTR, MET1101LYS (rs36210737)
HGVS:
  • NC_000007.14:g.117611743T>A
  • NG_016465.4:g.150960T>A
  • NM_000492.3:c.3302T>A
  • NP_000483.3:p.Met1101Lys
  • NC_000007.13:g.117251797T>A
  • NG_016465.1:g.136781T>A
  • P13569:p.Met1101Lys
Protein change:
M1101K; MET1101LYS
Links:
UniProtKB: P13569#VAR_000248; OMIM: 602421.0137; dbSNP: 36210737
NCBI 1000 Genomes Browser:
rs36210737
Allele Frequency:
0.00001(A)
Molecular consequence:
  • NM_000492.3:c.3302T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110865EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsno assertion criteria providedPathogenic
(Aug 30, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided412not providedclinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23757202

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000110865.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing
(GTR000501920)
PubMed (1)
2not provided0not providednot providedclinical testing
(GTR000503136)
PubMed (1)
3not provided0not providednot providedclinical testing PubMed (1)
4not provided0not providednot providedclinical testing PubMed (1)
5not provided0not providednot providedclinical testing PubMed (1)
6not provided0not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown383not providednot provided
(GTR000501920)
1not providednot providednot provided
2germlineunknown24not providednot provided
(GTR000503136)
0not providednot providednot provided
3germlineunknown5not providednot provided0not providednot providednot provided
4germlineunknownnot providednot providednot provided0not providednot providednot provided
5germlineunknownnot providednot providednot provided0not providednot providednot provided
6germlineunknownnot providednot providednot provided0not providednot providednot provided

Last Updated: Feb 10, 2018