NM_000492.4(CFTR):c.4092G>A (p.Ala1364=) AND not specified

Clinical significance:Likely benign (Last evaluated: Aug 20, 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:
RCV001000017.3

Allele description [Variation Report for NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)]

NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)

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.4092G>A (p.Ala1364=)
HGVS:
  • NC_000007.14:g.117664816G>A
  • NG_016465.4:g.204033G>A
  • NM_000492.4:c.4092G>AMANE SELECT
  • NP_000483.3:p.Ala1364=
  • NP_000483.3:p.Ala1364=
  • LRG_663t1:c.4092G>A
  • LRG_663:g.204033G>A
  • LRG_663p1:p.Ala1364=
  • NC_000007.13:g.117304870G>A
  • NM_000492.3:c.4092G>A
Links:
dbSNP: rs148878126
NCBI 1000 Genomes Browser:
rs148878126
Molecular consequence:
  • NM_000492.4:c.4092G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052190Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Aug 20, 2020)
germlineclinical testing

Citation Link,

SCV000883594ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Feb 14, 2019)
germlineclinical testing

Citation Link

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, SCV000052190.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883594.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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