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NM_000492.4(CFTR):c.2762G>T (p.Gly921Val) AND Cystic fibrosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 9, 2015
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:
RCV002439207.2

Allele description [Variation Report for NM_000492.4(CFTR):c.2762G>T (p.Gly921Val)]

NM_000492.4(CFTR):c.2762G>T (p.Gly921Val)

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.2762G>T (p.Gly921Val)
HGVS:
  • NC_000007.14:g.117603636G>T
  • NG_016465.4:g.142853G>T
  • NM_000492.4:c.2762G>TMANE SELECT
  • NP_000483.3:p.Gly921Val
  • LRG_663t1:c.2762G>T
  • LRG_663:g.142853G>T
  • NC_000007.13:g.117243690G>T
  • NM_000492.3:c.2762G>T
  • p.Gly921Val
Protein change:
G921V
Links:
dbSNP: rs193922508
NCBI 1000 Genomes Browser:
rs193922508
Molecular consequence:
  • NM_000492.4:c.2762G>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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002750348Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 9, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002750348.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.G921V variant (also known as c.2762G>T), located in coding exon 17 of the CFTR gene, results from a G to T substitution at nucleotide position 2762. The glycine at codon 921 is replaced by valine, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: May 1, 2024