NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser) AND Cystic fibrosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 9, 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:: RCV002400414.2

Allele description [Variation Report for NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser)]

NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser)

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.1744A>T (p.Thr582Ser)

HGVS:

NC_000007.14:g.117590417A>T
NG_016465.4:g.129634A>T
NM_000492.4:c.1744A>TMANE SELECT
NP_000483.3:p.Thr582Ser
NP_000483.3:p.Thr582Ser
LRG_663t1:c.1744A>T
LRG_663:g.129634A>T
LRG_663p1:p.Thr582Ser
NC_000007.13:g.117230471A>T
NM_000492.3:c.1744A>T

Protein change:

T582S

Links:

dbSNP: rs397508292

NCBI 1000 Genomes Browser:

rs397508292

Molecular consequence:

NM_000492.4:c.1744A>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002710278	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 9, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002710278

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 9, 2021)

germline

clinical testing

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

Citation Link

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

Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.

Morea A, Cameran M, Rebuffi AG, Marzenta D, Marangon O, Picci L, Zacchello F, Scarpa M.

Mol Hum Reprod. 2005 Aug;11(8):607-14. Epub 2005 Aug 26.

PubMed [citation]

PMID:: 16126774

Details of each submission

From Ambry Genetics, SCV002710278.2

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

Description

The p.T582S variant (also known as c.1744A>T), located in coding exon 13 of the CFTR gene, results from an A to T substitution at nucleotide position 1744. The threonine at codon 582 is replaced by serine, an amino acid with similar properties. This alteration has been identified in an unaffected control individual (Morea A et al. Mol Hum Reprod, 2005 Aug;11:607-14). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

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