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NM_000492.4(CFTR):c.128T>C (p.Val43Ala) AND Cystic fibrosis

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 17, 2016
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:
RCV002383289.2

Allele description [Variation Report for NM_000492.4(CFTR):c.128T>C (p.Val43Ala)]

NM_000492.4(CFTR):c.128T>C (p.Val43Ala)

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.128T>C (p.Val43Ala)
HGVS:
  • NC_000007.14:g.117504327T>C
  • NG_016465.4:g.43544T>C
  • NM_000492.4:c.128T>CMANE SELECT
  • NP_000483.3:p.Val43Ala
  • NP_000483.3:p.Val43Ala
  • LRG_663t1:c.128T>C
  • LRG_663:g.43544T>C
  • LRG_663p1:p.Val43Ala
  • NC_000007.13:g.117144381T>C
  • NM_000492.3:c.128T>C
Protein change:
V43A
Molecular consequence:
  • NM_000492.4:c.128T>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

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002694118Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 17, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002694118.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024