NM_001042702.5(PJVK):c.190_194del (p.Gly64fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 17, 2024
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:: RCV003686569.2

Allele description [Variation Report for NM_001042702.5(PJVK):c.190_194del (p.Gly64fs)]

NM_001042702.5(PJVK):c.190_194del (p.Gly64fs)

Gene:

PJVK:pejvakin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001042702.5(PJVK):c.190_194del (p.Gly64fs)

HGVS:

NC_000002.12:g.178453599_178453603del
NG_009053.1:g.2630_2634del
NG_012186.1:g.7164_7168del
NM_001042702.5:c.190_194delMANE SELECT
NM_001353775.2:c.199_203del
NM_001353776.2:c.295_299del
NM_001353777.1:c.-288_-284del
NM_001353778.2:c.-288_-284del
NM_001369912.1:c.190_194del
NP_001036167.1:p.Gly64fs
NP_001340704.1:p.Gly67fs
NP_001340705.1:p.Gly99fs
NP_001356841.1:p.Gly64fs
NC_000002.11:g.179318325_179318329del
NC_000002.11:g.179318326_179318330del

Protein change:

G64fs

Molecular consequence:

NM_001353777.1:c.-288_-284del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001353778.2:c.-288_-284del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001042702.5:c.190_194del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353775.2:c.199_203del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353776.2:c.295_299del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369912.1:c.190_194del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004433038	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 17, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17301963, 17718875, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004433038

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 17, 2024)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ.

Hum Mutat. 2007 Jun;28(6):571-7.

PubMed [citation]

PMID:: 17301963

Timing and predictors of postpartum return to smoking in a group of inner-city women: an exploratory pilot study.

Letourneau AR, Sonja B, Mazure CM, O'Malley SS, James D, Colson ER.

Birth. 2007 Sep;34(3):245-52.

PubMed [citation]

PMID:: 17718875

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004433038.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gly64Glnfs*16) in the DFNB59 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DFNB59 are known to be pathogenic (PMID: 17301963, 17718875). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DFNB59-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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: Sep 29, 2024

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