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NM_000492.4(CFTR):c.960A>T (p.Leu320Phe) AND CFTR-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 21, 2017
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:
RCV001165383.11

Allele description [Variation Report for NM_000492.4(CFTR):c.960A>T (p.Leu320Phe)]

NM_000492.4(CFTR):c.960A>T (p.Leu320Phe)

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.960A>T (p.Leu320Phe)
HGVS:
  • NC_000007.14:g.117540190A>T
  • NG_016465.4:g.79407A>T
  • NM_000492.4:c.960A>TMANE SELECT
  • NP_000483.3:p.Leu320Phe
  • NP_000483.3:p.Leu320Phe
  • LRG_663t1:c.960A>T
  • LRG_663:g.79407A>T
  • LRG_663p1:p.Leu320Phe
  • NC_000007.13:g.117180244A>T
  • NM_000492.3:c.960A>T
  • NM_000492.4:c.960A>T
Protein change:
L320F
Links:
dbSNP: rs56093012
NCBI 1000 Genomes Browser:
rs56093012
Molecular consequence:
  • NM_000492.4:c.960A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CFTR-related disorder (CFTR-RD)
Synonyms:
CFTR-related disorders; CFTR-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001327572Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Aug 21, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.

Pagin A, Devos A, Figeac M, Truant M, Willoquaux C, Broly F, Lalau G.

PLoS One. 2016;11(2):e0149426. doi: 10.1371/journal.pone.0149426.

PubMed [citation]
PMID:
26900683
PMCID:
PMC4762772

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001327572.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Oct 26, 2024