NM_000492.4(CFTR):c.744-33GATT[6] AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Oct 20, 2011
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000036521.27

Allele description [Variation Report for NM_000492.4(CFTR):c.744-33GATT[6]]

NM_000492.4(CFTR):c.744-33GATT[6]

Gene:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.744-33GATT[6]

HGVS:

NC_000007.14:g.117536515GATT[6]
NC_000007.14:g.117536515_117536518GATT[6]
NG_016465.4:g.75732GATT[6]
NM_000492.4:c.744-33GATT[6]MANE SELECT
LRG_663t1:c.744-33GATT[6]
LRG_663:g.75732GATT[6]
NC_000007.13:g.117176569GATT[6]
NC_000007.13:g.117176593_117176596del
NC_000007.13:g.117176593_117176596delGATT
NM_000492.3:c.744-33GATT[6]
NM_000492.3:c.744-33GATT[6]
NM_000492.3:c.744-9_744-6delGATT
NM_000492.4:c.744-9_744-6delMANE SELECT
c.744-11_744-8delTTGA
c.744-9_744-6delGATT

Links:

dbSNP: rs1805171

NCBI 1000 Genomes Browser:

rs1805171

Molecular consequence:

NM_000492.4:c.744-33GATT[6] - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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serine/threonine-protein kinase D2 isoform X1 [Homo sapiens]
serine/threonine-protein kinase D2 isoform X1 [Homo sapiens]
gi|2462564325|ref|XP_054176461.1|

Protein
conserved hypothetical protein [Cryptococcus neoformans var. neoformans JEC21]
conserved hypothetical protein [Cryptococcus neoformans var. neoformans JEC21]
gi|1376271470|ref|XP_024513568.1|

Protein
Mus musculus methionine aminopeptidase 2 (Metap2), mRNA
Mus musculus methionine aminopeptidase 2 (Metap2), mRNA
gi|83779008|ref|NM_019648.3|

Nucleotide
Apios carnea ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL...
Apios carnea ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplast
gi|1284845556|gb|MF786452.1|

Nucleotide
Metagenome or environmental sample from plant metagenome
Metagenome or environmental sample from plant metagenome

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000060176	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Oct 20, 2011)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 1990833, 11104661, 24033266
SCV000304502	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000060176

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Oct 20, 2011)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV000304502

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	13	13	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin.

Chehab FF, Johnson J, Louie E, Goossens M, Kawasaki E, Erlich H.

Am J Hum Genet. 1991 Feb;48(2):223-6.

PubMed [citation]

PMID:: 1990833
PMCID:: PMC1683013

Worldwide genetic analysis of the CFTR region.

Mateu E, Calafell F, Lao O, Bonné-Tamir B, Kidd JR, Pakstis A, Kidd KK, Bertranpetit J.

Am J Hum Genet. 2001 Jan;68(1):103-17. Epub 2000 Dec 4.

PubMed [citation]

PMID:: 11104661
PMCID:: PMC1234903

See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000060176.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	13	not provided	not provided	clinical testing	PubMed (3)

#	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		13	not provided	13	not provided

From PreventionGenetics, part of Exact Sciences, SCV000304502.1

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

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

Last Updated: Nov 3, 2024

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