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NM_004840.3(ARHGEF6):c.2007C>T (p.Ser669=) AND History of neurodevelopmental disorder

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 13, 2014
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:
RCV000720975.2

Allele description

NM_004840.3(ARHGEF6):c.2007C>T (p.Ser669=)

Gene:
ARHGEF6:Rac/Cdc42 guanine nucleotide exchange factor 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.3
Genomic location:
Preferred name:
NM_004840.3(ARHGEF6):c.2007C>T (p.Ser669=)
HGVS:
  • NC_000023.11:g.136675035G>A
  • NG_008873.1:g.111310C>T
  • NM_001306177.2:c.1545C>T
  • NM_004840.3:c.2007C>TMANE SELECT
  • NP_001293106.1:p.Ser515=
  • NP_004831.1:p.Ser669=
  • NC_000023.10:g.135757194G>A
  • NM_004840.2:c.2007C>T
Links:
dbSNP: rs12008084
NCBI 1000 Genomes Browser:
rs12008084
Molecular consequence:
  • NM_001306177.2:c.1545C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004840.3:c.2007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000851859Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Benign
(Dec 13, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000851859.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 23, 2022