NM_000492.3(CFTR):c.964G>A (p.Val322Met) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Oct 20, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000036522.2

Allele description [Variation Report for NM_000492.3(CFTR):c.964G>A (p.Val322Met)]

NM_000492.3(CFTR):c.964G>A (p.Val322Met)

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.964G>A (p.Val322Met)
HGVS:
  • NC_000007.14:g.117540194G>A
  • NG_016465.4:g.79411G>A
  • NM_000492.3:c.964G>A
  • NP_000483.3:p.Val322Met
  • NC_000007.13:g.117180248G>A
  • P13569:p.Val322Met
  • c.964G>A
Protein change:
V322M
Links:
UniProtKB: P13569#VAR_009898; dbSNP: 1800085
NCBI 1000 Genomes Browser:
rs1800085
Allele Frequency:
0.00005(A)
Molecular consequence:
  • NM_000492.3:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000060177Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Oct 20, 2011)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.

Le Maréchal C, Audrézet MP, Quéré I, Raguénès O, Langonné S, Férec C.

Hum Genet. 2001 Apr;108(4):290-8.

PubMed [citation]
PMID:
11379874

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000060177.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The Val322Met variant in CFTR has been reported in one French individual with cystic fibrosis and was absent from at least 8 control chromosomes (Le Marechal 2001); it is unclear from this report if this individual carried any other variants in CFTR. This variant has also been reported in dbSNP without frequency information (rs1800085). Valine (Val) at position 322 is well conserved in mammals and chicken, but not in more distantly related species, and computational analyses (PolyPhen2, SIFT, AlignGVGD) do not provide strong evidence for or against pathogenicity. In summary, additional information is required to assess the clinical significance of this variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Feb 15, 2018