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NM_000492.4(CFTR):c.1999C>T (p.His667Tyr) AND Cystic fibrosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 21, 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:
RCV003296524.2

Allele description [Variation Report for NM_000492.4(CFTR):c.1999C>T (p.His667Tyr)]

NM_000492.4(CFTR):c.1999C>T (p.His667Tyr)

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.1999C>T (p.His667Tyr)
HGVS:
  • NC_000007.14:g.117592166C>T
  • NG_016465.4:g.131383C>T
  • NM_000492.4:c.1999C>TMANE SELECT
  • NP_000483.3:p.His667Tyr
  • NP_000483.3:p.His667Tyr
  • LRG_663t1:c.1999C>T
  • LRG_663:g.131383C>T
  • LRG_663p1:p.His667Tyr
  • NC_000007.13:g.117232220C>T
  • NM_000492.3:c.1999C>T
Protein change:
H667Y
Molecular consequence:
  • NM_000492.4:c.1999C>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
SCV003998973Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 21, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

Rosendahl J, Landt O, Bernadova J, Kovacs P, Teich N, Bödeker H, Keim V, Ruffert C, Mössner J, Kage A, Stumvoll M, Groneberg D, Krüger R, Luck W, Treiber M, Becker M, Witt H.

Gut. 2013 Apr;62(4):582-92. doi: 10.1136/gutjnl-2011-300645. Epub 2012 Mar 17.

PubMed [citation]
PMID:
22427236

Details of each submission

From Ambry Genetics, SCV003998973.2

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

Description

The p.H667Y variant (also known as c.1999C>T), located in coding exon 14 of the CFTR gene, results from a C to T substitution at nucleotide position 1999. The histidine at codon 667 is replaced by tyrosine, an amino acid with similar properties. This alteration was identified in an individual diagnosed with pancreatitis. The individual also carried the 5T alteration however the phase of these alterations was not documented (Rosendahl J et al. Gut, 2013 Apr;62:582-92). This amino acid position is highly 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 alteration remains unclear.

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

Last Updated: May 1, 2024