NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 19, 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:: RCV000198833.4

Allele description [Variation Report for NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)]

NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)

Gene:

DNAJC19:DnaJ heat shock protein family (Hsp40) member C19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.33

Genomic location:

Preferred name:

NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)

Other names:

p.R61W:CGG>TGG

HGVS:

NC_000003.12:g.180986971G>A
NG_022933.1:g.7804C>T
NM_001190233.2:c.106C>T
NM_145261.4:c.181C>TMANE SELECT
NP_001177162.1:p.Arg36Trp
NP_660304.1:p.Arg61Trp
LRG_743t1:c.181C>T
LRG_743:g.7804C>T
LRG_743p1:p.Arg61Trp
NC_000003.11:g.180704759G>A
NM_145261.3:c.181C>T
NR_033721.2:n.263C>T

Protein change:

R36W

Links:

dbSNP: rs141007488

NCBI 1000 Genomes Browser:

rs141007488

Molecular consequence:

NM_001190233.2:c.106C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_145261.4:c.181C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_033721.2:n.263C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000251337	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Dec 19, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000251337

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Dec 19, 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, SCV000251337.12

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

Description

The R61W variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The R61W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

#	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: May 1, 2024

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