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NM_000492.4(CFTR):c.1210-34TG[10] AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 11, 2018
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:
RCV001172257.10

Allele description [Variation Report for NM_000492.4(CFTR):c.1210-34TG[10]]

NM_000492.4(CFTR):c.1210-34TG[10]

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.1210-34TG[10]
HGVS:
  • NC_000007.14:g.117548607_117548608delTG
  • NC_000007.14:g.117548608GT[10]
  • NG_016465.4:g.87825GT[10]
  • NM_000492.4:c.1210-34TG[10]MANE SELECT
  • LRG_663t1:c.1210-34TG[10]
  • LRG_663:g.87825GT[10]
  • NC_000007.13:g.117188661_117188662del
  • NC_000007.13:g.117188662GT[10]
  • NC_000007.13:g.117188682_117188683del
  • NC_000007.13:g.117188682_117188683delGT
  • NM_000492.3:c.1210-13_1210-12delGT
  • NM_000492.3:c.1210-14_1210-13del
  • NM_000492.3:c.1210-34TG[10]
  • NM_000492.3:c.1210-34TG[10]
  • c.1210-14_1210-13delTG
Links:
dbSNP: rs3832534
NCBI 1000 Genomes Browser:
rs3832534
Molecular consequence:
  • NM_000492.4:c.1210-34TG[10] - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001170542Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))		Likely benign
(Oct 11, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001170542.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Other strong data

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024