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NM_001077665.3(AGAP6):c.1702C>T (p.Arg568Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 2023
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:
RCV004295205.1

Allele description [Variation Report for NM_001077665.3(AGAP6):c.1702C>T (p.Arg568Cys)]

NM_001077665.3(AGAP6):c.1702C>T (p.Arg568Cys)

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.1702C>T (p.Arg568Cys)
HGVS:
  • NC_000010.11:g.50009827C>T
  • NM_001077665.3:c.1702C>TMANE SELECT
  • NM_001365867.2:c.1099C>T
  • NP_001071133.2:p.Arg568Cys
  • NP_001352796.1:p.Arg367Cys
  • NC_000010.10:g.51769587C>T
  • NM_001077665.2:c.1702C>T
  • NR_158654.1:n.2207C>T
  • NR_158656.1:n.2266C>T
  • NR_158657.1:n.2390C>T
  • NR_158658.1:n.2465C>T
  • NR_158659.1:n.2616C>T
  • NR_158660.1:n.2648C>T
  • NR_158661.1:n.2928C>T
  • NR_171667.1:n.2384C>T
Protein change:
R367C
Molecular consequence:
  • NM_001077665.3:c.1702C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365867.2:c.1099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_158654.1:n.2207C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_158656.1:n.2266C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_158657.1:n.2390C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_158658.1:n.2465C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_158659.1:n.2616C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_158660.1:n.2648C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_158661.1:n.2928C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_171667.1:n.2384C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003952739Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 18, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003952739.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1702C>T (p.R568C) alteration is located in exon 8 (coding exon 8) of the AGAP6 gene. This alteration results from a C to T substitution at nucleotide position 1702, causing the arginine (R) at amino acid position 568 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024