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NM_000492.4(CFTR):c.3388G>C (p.Gly1130Arg) AND CFTR-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 9, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001250131.2

Allele description [Variation Report for NM_000492.4(CFTR):c.3388G>C (p.Gly1130Arg)]

NM_000492.4(CFTR):c.3388G>C (p.Gly1130Arg)

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.3388G>C (p.Gly1130Arg)
HGVS:
  • NC_000007.14:g.117614633G>C
  • NG_016465.4:g.153850G>C
  • NM_000492.4:c.3388G>CMANE SELECT
  • NP_000483.3:p.Gly1130Arg
  • LRG_663t1:c.3388G>C
  • LRG_663:g.153850G>C
  • NC_000007.13:g.117254687G>C
  • NM_000492.3:c.3388G>C
Protein change:
G1130R
Links:
dbSNP: rs1005269197
NCBI 1000 Genomes Browser:
rs1005269197
Molecular consequence:
  • NM_000492.4:c.3388G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
CFTR-related disorder (CFTR-RD)
Synonyms:
CFTR-related disorders; CFTR-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001424533Genomics For Life
no assertion criteria provided
Uncertain significance
(Dec 9, 2019) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genomics For Life, SCV001424533.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 19, 2024