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NM_000492.4(CFTR):c.3595A>C (p.Lys1199Gln) AND Cystic fibrosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 2023
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:
RCV003311494.2

Allele description [Variation Report for NM_000492.4(CFTR):c.3595A>C (p.Lys1199Gln)]

NM_000492.4(CFTR):c.3595A>C (p.Lys1199Gln)

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.3595A>C (p.Lys1199Gln)
HGVS:
  • NC_000007.14:g.117627648A>C
  • NG_016465.4:g.166865A>C
  • NM_000492.4:c.3595A>CMANE SELECT
  • NP_000483.3:p.Lys1199Gln
  • NP_000483.3:p.Lys1199Gln
  • LRG_663t1:c.3595A>C
  • LRG_663:g.166865A>C
  • LRG_663p1:p.Lys1199Gln
  • NC_000007.13:g.117267702A>C
  • NM_000492.3:c.3595A>C
Protein change:
K1199Q
Molecular consequence:
  • NM_000492.4:c.3595A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis
Identifiers:
MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004002635Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 25, 2023) 		germlineclinical testing

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 Ambry Genetics, SCV004002635.2

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

Description

The p.K1199Q variant (also known as c.3595A>C), located in coding exon 22 of the CFTR gene, results from an A to C substitution at nucleotide position 3595. The lysine at codon 1199 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024