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NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn) AND Cystic fibrosis

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 10, 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:
RCV000577056.7

Allele description [Variation Report for NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn)]

NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn)

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.1714G>A (p.Asp572Asn)
HGVS:
  • NC_000007.14:g.117590387G>A
  • NG_016465.4:g.129604G>A
  • NM_000492.4:c.1714G>AMANE SELECT
  • NP_000483.3:p.Asp572Asn
  • NP_000483.3:p.Asp572Asn
  • LRG_663t1:c.1714G>A
  • LRG_663:g.129604G>A
  • LRG_663p1:p.Asp572Asn
  • NC_000007.13:g.117230441G>A
  • NM_000492.3:c.1714G>A
  • P13569:p.Asp572Asn
Protein change:
D572N
Links:
UniProtKB: P13569#VAR_000194; dbSNP: rs397508282
NCBI 1000 Genomes Browser:
rs397508282
Molecular consequence:
  • NM_000492.4:c.1714G>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000678927ClinVar Staff, National Center for Biotechnology Information (NCBI)
no classification provided
not providedgermlineliterature only

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

SCV002273325Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(May 10, 2021) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.

Verlingue C, Kapranov NI, Mercier B, Ginter EK, Petrova NV, Audrezet MP, Férec C.

Hum Mutat. 1995;5(3):205-9.

PubMed [citation]
PMID:
7541273

Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Petrova G, Yaneva N, Hrbková J, Libik M, Savov A, Macek M Jr.

Mol Genet Genomic Med. 2019 Aug;7(8):e696. doi: 10.1002/mgg3.696. Epub 2019 Jun 27.

PubMed [citation]
PMID:
31245908
PMCID:
PMC6687650
See all PubMed Citations (4)

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000678927.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002273325.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant has been observed in individual(s) with cystic fibrosis (PMID: 7541273, 31245908). ClinVar contains an entry for this variant (Variation ID: 53358). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this variant affects CFTR protein function (PMID: 1712898). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with asparagine at codon 572 of the CFTR protein (p.Asp572Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024