NM_001042702.5(PJVK):c.437G>A (p.Arg146His) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 2012
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:: RCV000036835.5

Allele description [Variation Report for NM_001042702.5(PJVK):c.437G>A (p.Arg146His)]

NM_001042702.5(PJVK):c.437G>A (p.Arg146His)

Gene:

PJVK:pejvakin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001042702.5(PJVK):c.437G>A (p.Arg146His)

HGVS:

NC_000002.12:g.178456039G>A
NG_009053.1:g.193C>T
NG_012186.1:g.9604G>A
NM_001042702.5:c.437G>AMANE SELECT
NM_001353775.2:c.446G>A
NM_001353776.2:c.542G>A
NM_001353777.1:c.-41G>A
NM_001353778.2:c.-41G>A
NM_001369912.1:c.437G>A
NP_001036167.1:p.Arg146His
NP_001340704.1:p.Arg149His
NP_001340705.1:p.Arg181His
NP_001356841.1:p.Arg146His
NC_000002.11:g.179320766G>A
NM_001042702.3:c.437G>A
c.437G>A

Protein change:

R146H

Links:

dbSNP: rs369805509

NCBI 1000 Genomes Browser:

rs369805509

Molecular consequence:

NM_001353777.1:c.-41G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001353778.2:c.-41G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001042702.5:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353775.2:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353776.2:c.542G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369912.1:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000060490	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Dec 28, 2012)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000060490

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Dec 28, 2012)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000060490.5

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

Description

The Arg146His variant in DFNB59 has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the A rg146His variant may not impact the protein and several species (chicken and wes tern clawed frog) carry a histidine (His) as this position; however, this inform ation is not predictive enough to rule out pathogenicity. This variant has been identified in 0.01% (1/8306) of European American chromosomes in a broad populat ion by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/). A lthough this variant has been seen in the general population, its frequency is n ot high enough to rule out a pathogenic role. In summary, additional data is nee ded to determine the clinical significance of this variant.

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

Last Updated: May 1, 2024

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