NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 2, 2021
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:: RCV002254276.5

Allele description [Variation Report for NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)]

NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674472:DNase I hypersensitive sites in introns 16 and 17a of CFTR [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)

HGVS:

NC_000007.14:g.117610637C>A
NG_016465.4:g.149854C>A
NG_056128.2:g.3691C>A
NM_000492.4:c.3107C>AMANE SELECT
NP_000483.3:p.Thr1036Asn
NP_000483.3:p.Thr1036Asn
LRG_663t1:c.3107C>A
LRG_663:g.149854C>A
LRG_663p1:p.Thr1036Asn
NC_000007.13:g.117250691C>A
NM_000492.3:c.3107C>A

Protein change:

T1036N

Links:

dbSNP: rs397508498

NCBI 1000 Genomes Browser:

rs397508498

Molecular consequence:

NM_000492.4:c.3107C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002525779	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 2, 2021)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 16189704, 21416780, 24687356, 27214204, 32227567, 32429104, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002525779

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 2, 2021)

germline

clinical testing

PubMed (7)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.

McGinniss MJ, Chen C, Redman JB, Buller A, Quan F, Peng M, Giusti R, Hantash FM, Huang D, Sun W, Strom CM.

Hum Genet. 2005 Dec;118(3-4):331-8. Epub 2005 Sep 28.

PubMed [citation]

PMID:: 16189704

CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening.

Chávez-Saldaña M, Yokoyama E, Lezana JL, Carnevale A, Macías M, Vigueras RM, López M, Orozco L.

Rev Invest Clin. 2010 Nov-Dec;62(6):546-52.

PubMed [citation]

PMID:: 21416780

See all PubMed Citations (7)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV002525779.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

PM2, PM3_strong

#	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: Sep 29, 2024

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