NM_001077665.3(AGAP6):c.410G>A (p.Arg137His) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 11, 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:: RCV004208131.1

Allele description [Variation Report for NM_001077665.3(AGAP6):c.410G>A (p.Arg137His)]

NM_001077665.3(AGAP6):c.410G>A (p.Arg137His)

Genes:

AGAP6:ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 [Gene - HGNC]
TIMM23B-AGAP6:TIMM23B-AGAP6 readthrough (NMD candidate) [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

Preferred name:

NM_001077665.3(AGAP6):c.410G>A (p.Arg137His)

HGVS:

NC_000010.11:g.50002009G>A
NM_001077665.3:c.410G>AMANE SELECT
NM_001365867.2:c.-528G>A
NP_001071133.2:p.Arg137His
NC_000010.10:g.51761769G>A
NM_001077665.2:c.410G>A
NR_158654.1:n.915G>A
NR_158656.1:n.974G>A
NR_158657.1:n.1098G>A
NR_158658.1:n.1173G>A
NR_158659.1:n.1324G>A
NR_158660.1:n.1356G>A
NR_158661.1:n.1636G>A
NR_171667.1:n.758G>A

Protein change:

R137H

Molecular consequence:

NM_001077665.3:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_158654.1:n.915G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_158656.1:n.974G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_158657.1:n.1098G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_158658.1:n.1173G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_158659.1:n.1324G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_158660.1:n.1356G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_158661.1:n.1636G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_171667.1:n.758G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Enterobacteriaceae bacterium strain Ab.194 RS 16S ribosomal RNA gene, partial se...
Enterobacteriaceae bacterium strain Ab.194 RS 16S ribosomal RNA gene, partial sequence
gi|2809223507|gb|PQ373107.1|

Nucleotide
Polyradiculopathy
Polyradiculopathy
Disease or injury involving multiple SPINAL NERVE ROOTS. Polyradiculitis refers to inflammation of multiple spinal nerve roots.<br/>Year introduced: 2000(1966)

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003715060	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Aug 11, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003715060

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Aug 11, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003715060.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024

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