NM_000492.4(CFTR):c.1210-34TG[12] AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: May 25, 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:: RCV000156213.14

Allele description [Variation Report for NM_000492.4(CFTR):c.1210-34TG[12]]

NM_000492.4(CFTR):c.1210-34TG[12]

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[12]

HGVS:

NC_000007.14:g.117548608GT[12]
NC_000007.14:g.117548608_117548609insTG
NG_016465.4:g.87825GT[12]
NM_000492.4:c.1210-34TG[12]MANE SELECT
LRG_663t1:c.1210-34_1210-33TG[12]
LRG_663:g.87825GT[12]
NC_000007.13:g.117188660_117188661insTG
NC_000007.13:g.117188662GT[12]
NC_000007.13:g.117188682_117188683dup
NC_000007.13:g.117188682_117188683dupGT
NM_000492.3:c.1210-33_1210-32insTG
NM_000492.3:c.1210-34_1210-33TG[12]
NM_000492.4:c.1210-13_1210-12dupMANE SELECT

Links:

dbSNP: rs3832534

NCBI 1000 Genomes Browser:

rs3832534

Molecular consequence:

NM_000492.4:c.1210-34TG[12] - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000197435	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (May 25, 2018)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 14685937, 17314234, 9435322, 23092102, 22427236, 28776713, 28456595, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000197435

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(May 25, 2018)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	20	21	not provided	not provided	not provided	clinical testing

Citations

PubMed

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, et al.

Am J Hum Genet. 2004 Jan;74(1):176-9. Epub 2003 Dec 18.

PubMed [citation]

PMID:: 14685937
PMCID:: PMC1181905

Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.

Radpour R, Gourabi H, Gilani MA, Dizaj AV.

J Androl. 2007 Jul-Aug;28(4):541-7. Epub 2007 Feb 21.

PubMed [citation]

PMID:: 17314234

See all PubMed Citations (8)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000197435.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	20	not provided	not provided	clinical testing	PubMed (8)

Description

The c.1210-34TG[12]T[7] allele in intron 9 of the CFTR gene is classified as be nign because it has been identified in 43% (6544/15040) of East Asian chromosome s in the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs3832534). 930 homozygotes have also been identfied in the gnomAD databas e. ACMG/AMP Criteria applied: BA1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		20	not provided	21	not provided

Last Updated: Oct 26, 2024

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