NM_002437.5(MPV17):c.20A>G (p.Tyr7Cys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 28, 2019
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:: RCV000199973.10

Allele description [Variation Report for NM_002437.5(MPV17):c.20A>G (p.Tyr7Cys)]

NM_002437.5(MPV17):c.20A>G (p.Tyr7Cys)

Genes:

LOC129933372:ATAC-STARR-seq lymphoblastoid active region 15495 [Gene]
MPV17:mitochondrial inner membrane protein MPV17 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_002437.5(MPV17):c.20A>G (p.Tyr7Cys)

Other names:

p.Y7C:TAC>TGC

HGVS:

NC_000002.12:g.27322498T>C
NG_008075.1:g.5067A>G
NM_002437.5:c.20A>GMANE SELECT
NP_002428.1:p.Tyr7Cys
NC_000002.11:g.27545365T>C
NM_002437.4:c.20A>G

Protein change:

Y7C

Links:

dbSNP: rs367838807

NCBI 1000 Genomes Browser:

rs367838807

Molecular consequence:

NM_002437.5:c.20A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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dominant-negative kinase-deficient Brutons tyrosine kinase isoform 8, partial [H...
dominant-negative kinase-deficient Brutons tyrosine kinase isoform 8, partial [Homo sapiens]
gi|76057635|emb|CAJ19688.1|

Protein
ISM2 isthmin 2 [Homo sapiens]
ISM2 isthmin 2 [Homo sapiens]
Gene ID:145501

Gene
Campylobacter
Campylobacter
GenomeTrakr Project: Thakur Molecular Epidemiology Laboratory, NC State University

BioProject
BioProject Links for BioSample (Select 39259657) (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000251739	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 28, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000251739

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 28, 2019)

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, SCV000251739.12

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

#	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: Nov 3, 2024

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