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NM_006494.4(ERF):c.1177del (p.Glu393fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 24, 2018
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:
RCV001008368.1

Allele description [Variation Report for NM_006494.4(ERF):c.1177del (p.Glu393fs)]

NM_006494.4(ERF):c.1177del (p.Glu393fs)

Gene:
ERF:ETS2 repressor factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_006494.4(ERF):c.1177del (p.Glu393fs)
HGVS:
  • NC_000019.10:g.42248938del
  • NG_042802.1:g.11230del
  • NM_001301035.2:c.952del
  • NM_001308402.2:c.952del
  • NM_001312656.2:c.952del
  • NM_006494.4:c.1177delMANE SELECT
  • NP_001287964.1:p.Glu318fs
  • NP_001295331.1:p.Glu318fs
  • NP_001299585.1:p.Glu318fs
  • NP_006485.2:p.Glu393fs
  • NC_000019.9:g.42753090del
  • NM_006494.2:c.1177delG
Protein change:
E318fs
Links:
dbSNP: rs1599820741
NCBI 1000 Genomes Browser:
rs1599820741
Molecular consequence:
  • NM_001301035.2:c.952del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001308402.2:c.952del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001312656.2:c.952del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006494.4:c.1177del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001168136GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Sep 24, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001168136.1

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

Description

The c.1177delG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1177delG variant is not observed in large population cohorts (Lek et al., 2016). The c.1177delG variant causes a frameshift starting with codon Glutamic acid 393, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Glu393ArgfsX4. This variant is predicted to cause loss of normal protein function through protein truncation as the last 156 amino acids of the protein are lost and replaced with 3 incorrect amino acids. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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

Last Updated: Apr 23, 2022