NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 3, 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:: RCV000486190.3

Allele description [Variation Report for NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs)]

NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs)

Gene:

RAB3GAP1:RAB3 GTPase activating protein catalytic subunit 1 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

2q21.3

Genomic location:

Preferred name:

NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs)

HGVS:

NC_000002.12:g.135115363_135115364insC
NG_016972.1:g.68099_68100insC
NM_001172435.2:c.630_631insC
NM_012233.3:c.630_631insCMANE SELECT
NP_001165906.1:p.Ile211fs
NP_036365.1:p.Ile211fs
NC_000002.11:g.135872933_135872934insC
NM_012233.2:c.630_631insC

Protein change:

I211fs

Links:

dbSNP: rs1064794536

NCBI 1000 Genomes Browser:

rs1064794536

Molecular consequence:

NM_001172435.2:c.630_631insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012233.3:c.630_631insC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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palmitoyltransferase ZDHHC2 isoform X1 [Mus musculus]
palmitoyltransferase ZDHHC2 isoform X1 [Mus musculus]
gi|568954956|ref|XP_006509548.1|

Protein
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MedGen
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Primary cutaneous lymphoma

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serine protease SPPA, chloroplastic [Cucurbita pepo subsp. pepo]
serine protease SPPA, chloroplastic [Cucurbita pepo subsp. pepo]
gi|1333114773|ref|XP_023531570.1|

Protein
dCTP pyrophosphatase 1 [Cucumis sativus]
dCTP pyrophosphatase 1 [Cucumis sativus]
gi|449440820|ref|XP_004138182.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000569396	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 3, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000569396

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 3, 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, SCV000569396.5

#	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: Nov 10, 2024

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