NM_053013.4(ENO3):c.710del (p.Pro237fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 24, 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:: RCV000482153.1

Allele description [Variation Report for NM_053013.4(ENO3):c.710del (p.Pro237fs)]

NM_053013.4(ENO3):c.710del (p.Pro237fs)

Gene:

ENO3:enolase 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_053013.4(ENO3):c.710del (p.Pro237fs)

HGVS:

NC_000017.11:g.4955449del
NG_012063.2:g.14359del
NM_001193503.2:c.581del
NM_001976.5:c.710del
NM_053013.4:c.710delMANE SELECT
NP_001180432.1:p.Pro194fs
NP_001967.3:p.Pro237fs
NP_443739.3:p.Pro237fs
NC_000017.10:g.4858742del
NC_000017.10:g.4858744del
NM_053013.3:c.710delC

Protein change:

P194fs

Links:

dbSNP: rs778664924

NCBI 1000 Genomes Browser:

rs778664924

Molecular consequence:

NM_001193503.2:c.581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001976.5:c.710del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_053013.4:c.710del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens basic helix-loop-helix transcription factor 6 (HATH6), mRNA
Homo sapiens basic helix-loop-helix transcription factor 6 (HATH6), mRNA
gi|31542931|ref|NM_032827.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000571373	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Aug 24, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571373

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Aug 24, 2016)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000571373.4

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

Description

The c.710delC variant in the ENO3 gene causes a frameshift starting with codon Proline 237, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Pro237GlnfsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is interpreted to be a likely pathogenic variant.

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

Last Updated: Sep 29, 2024

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