NM_138272.3(MPIG6B):c.30del (p.Leu11fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 7, 2022
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:: RCV002283067.2

Allele description [Variation Report for NM_138272.3(MPIG6B):c.30del (p.Leu11fs)]

NM_138272.3(MPIG6B):c.30del (p.Leu11fs)

Gene:

MPIG6B:megakaryocyte and platelet inhibitory receptor G6b [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p21.33

Genomic location:

Preferred name:

NM_138272.3(MPIG6B):c.30del (p.Leu11fs)

HGVS:

NC_000006.12:g.31723413del
NG_029044.2:g.5070del
NM_025260.4:c.30del
NM_138272.3:c.30delMANE SELECT
NM_138273.3:c.30del
NM_138274.3:c.30del
NM_138275.3:c.30del
NM_138277.3:c.30del
NP_079536.2:p.Leu11fs
NP_612116.1:p.Leu11fs
NP_612117.1:p.Leu11fs
NP_612118.1:p.Leu11fs
NP_612119.1:p.Leu11fs
NP_612121.1:p.Leu11fs
LRG_1003t1:c.30del
LRG_1003t2:c.30del
LRG_1003:g.5070del
LRG_1003p1:p.Leu11fs
LRG_1003p2:p.Leu11fs
NC_000006.11:g.31691190del
NM_138277.2:c.30del

Protein change:

L11fs

Molecular consequence:

NM_025260.4:c.30del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138272.3:c.30del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138273.3:c.30del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138274.3:c.30del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138275.3:c.30del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138277.3:c.30del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002571235	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 7, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002571235

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Sep 7, 2022)

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, SCV002571235.2

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

Description

Frameshift variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

#	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: Mar 26, 2023

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