NM_000492.4(CFTR):c.435TCA[1] (p.His147del) AND Cystic fibrosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 17, 2015
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:: RCV002333576.2

Allele description [Variation Report for NM_000492.4(CFTR):c.435TCA[1] (p.His147del)]

NM_000492.4(CFTR):c.435TCA[1] (p.His147del)

Gene:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.435TCA[1] (p.His147del)

HGVS:

NC_000007.14:g.117531060TCA[1]
NG_016465.4:g.70277TCA[1]
NM_000492.4:c.435TCA[1]MANE SELECT
NP_000483.3:p.His147del
NP_000483.3:p.His147del
LRG_663t1:c.435_437TCA[1]
LRG_663:g.70277TCA[1]
LRG_663p1:p.His147del
NC_000007.13:g.117171114TCA[1]
NM_000492.3:c.435_437TCA[1]
NM_000492.3:c.438_440delTCA

Protein change:

H147del

Molecular consequence:

NM_000492.4:c.435TCA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Cystic fibrosis (CF)
Synonyms:: Mucoviscidosis
Identifiers:: MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002631151	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 17, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002631151

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 17, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002631151.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.438_440delTCA variant (also known as p.H147del) is located in coding exon 4 of the CFTR gene. This variant results from an in-frame TCA deletion between nucleotide positions 438 and 440. This results in the deletion of a histidine residue at codon 147. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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