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NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001004288.1

Allele description [Variation Report for NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)]

NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674472:DNase I hypersensitive sites in introns 16 and 17a of CFTR [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
HGVS:
  • NC_000007.14:g.117610577T>C
  • NG_016465.4:g.149794T>C
  • NG_056128.2:g.3631T>C
  • NM_000492.4:c.3047T>CMANE SELECT
  • NP_000483.3:p.Phe1016Ser
  • NP_000483.3:p.Phe1016Ser
  • LRG_663t1:c.3047T>C
  • LRG_663:g.149794T>C
  • LRG_663p1:p.Phe1016Ser
  • NC_000007.13:g.117250631T>C
  • NM_000492.3:c.3047T>C
Protein change:
F1016S
Links:
dbSNP: rs397508488
NCBI 1000 Genomes Browser:
rs397508488
Molecular consequence:
  • NM_000492.4:c.3047T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis
Identifiers:
MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700
Name:
Congenital bilateral aplasia of vas deferens from CFTR mutation (CBAVD)
Identifiers:
MONDO: MONDO:0010178; MedGen: C0403814; Orphanet: 48; OMIM: 277180

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001163164Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV001163164.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024