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NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) AND Infertility disorder

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001327947.9

Allele description [Variation Report for NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)]

NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
HGVS:
  • NC_000007.14:g.117559594T>G
  • NG_016465.4:g.98811T>G
  • NM_000492.4:c.1523T>GMANE SELECT
  • NP_000483.3:p.Phe508Cys
  • NP_000483.3:p.Phe508Cys
  • LRG_663t1:c.1523T>G
  • LRG_663:g.98811T>G
  • LRG_663p1:p.Phe508Cys
  • NC_000007.13:g.117199648T>G
  • NM_000492.3:c.1523T>G
  • P13569:p.Phe508Cys
Protein change:
F508C; PHE508CYS
Links:
Genetic Testing Registry (GTR): GTR000074114; Genetic Testing Registry (GTR): GTR000500233; UniProtKB: P13569#VAR_000172; OMIM: 602421.0025; dbSNP: rs74571530
NCBI 1000 Genomes Browser:
rs74571530
Molecular consequence:
  • NM_000492.4:c.1523T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Infertility disorder
Synonyms:
Infertility
Identifiers:
MONDO: MONDO:0005047; MedGen: C0021359; Human Phenotype Ontology: HP:0000789

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001432725MAGI's Lab - Research, MAGI Group
no assertion criteria provided
Uncertain significancegermlineprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From MAGI's Lab - Research, MAGI Group, SCV001432725.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025