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NM_000492.4(CFTR):c.960A>T (p.Leu320Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 17, 2023
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:
RCV003323377.8

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004028735Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 17, 2023) 		germlineclinical testing

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

Citation Link

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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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004028735.1

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

Description

Variant summary: CFTR c.960A>T (p.Leu320Phe) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251280 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.960A>T in individuals affected with Cystic Fibrosis and no experimental evidence demonstrating its impact on protein function have been reported. However, it has been observed in the literature in unaffected carriers. The following publications have been ascertained in the context of this evaluation (PMID: 16126774, 26900683). Six submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024