U.S. flag

An official website of the United States government

NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) AND CFTR-related disorder

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 2, 2019
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:
RCV001826447.12

Allele description [Variation Report for NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)]

NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)

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.3752G>A (p.Ser1251Asn)
HGVS:
  • NC_000007.14:g.117642472G>A
  • NG_016465.4:g.181689G>A
  • NM_000492.4:c.3752G>AMANE SELECT
  • NP_000483.3:p.Ser1251Asn
  • NP_000483.3:p.Ser1251Asn
  • LRG_663t1:c.3752G>A
  • LRG_663:g.181689G>A
  • LRG_663p1:p.Ser1251Asn
  • NC_000007.13:g.117282526G>A
  • NM_000492.3:c.3752G>A
  • P13569:p.Ser1251Asn
Protein change:
S1251N; SER1251ASN
Links:
PharmGKB: 1183960800; PharmGKB: 1183960800PA165950341; PharmGKB Clinical Annotation: 1183960800; UniProtKB: P13569#VAR_000258; OMIM: 602421.0112; dbSNP: rs74503330
NCBI 1000 Genomes Browser:
rs74503330
Molecular consequence:
  • NM_000492.4:c.3752G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CFTR-related disorder (CFTR-RD)
Synonyms:
CFTR-related disorders; CFTR-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002075880Natera, Inc.
no assertion criteria provided
Pathogenic
(Mar 17, 2017) 		germlineclinical testing

SCV002507414Genome Diagnostics Laboratory, The Hospital for Sick Children
no assertion criteria provided
Pathogenic
(Oct 2, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002075880.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002507414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024