NM_001025616.3(ARHGAP24):c.268+242A>C AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 28, 2021
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:: RCV001534193.2

Allele description

NM_001025616.3(ARHGAP24):c.268+242A>C

Gene:

ARHGAP24:Rho GTPase activating protein 24 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q21.23

Genomic location:

Preferred name:

NM_001025616.3(ARHGAP24):c.268+242A>C

HGVS:

NC_000004.12:g.85722214A>C
NG_051627.1:g.252084A>C
NM_001025616.3:c.268+242A>CMANE SELECT
NC_000004.11:g.86643367A>C

Links:

dbSNP: rs116523903

NCBI 1000 Genomes Browser:

rs116523903

Molecular consequence:

NM_001025616.3:c.268+242A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Callithrix jacchus Contig66.127, whole genome shotgun sequence
Callithrix jacchus Contig66.127, whole genome shotgun sequence
gi|283290693|gb|ACFV01054180.1||gnl ACFV01|Contig66.127

Nucleotide
Rattus norvegicus alternatively spliced signal transducer and regulator of trans...
Rattus norvegicus alternatively spliced signal transducer and regulator of transcription 5a2 (STAT5a2) mRNA, partial cds
gi|1009021|gb|U25137.1|RNU25137

Nucleotide
Desmodus rotundus isolate HL8 chromosome 13, HLdesRot8A, whole genome shotgun se...
Desmodus rotundus isolate HL8 chromosome 13, HLdesRot8A, whole genome shotgun sequence
gi|2449937999|gnl|ASM:GCF_022683505 al_scaffold_11|ref|NC_071399.1||gpp|GPC_000016343.1||gnl|NCBI_GENOMES|133341

Nucleotide
Desmodus rotundus isolate HL8 chromosome X, whole genome shotgun sequence
Desmodus rotundus isolate HL8 chromosome X, whole genome shotgun sequence
gi|2211507531|gb|CM040301.1||gnl|WG FFZ|manual_scaffold_7

Nucleotide
Desmodus rotundus isolate HL8 chromosome 6, whole genome shotgun sequence
Desmodus rotundus isolate HL8 chromosome 6, whole genome shotgun sequence
gi|2211507546|gb|CM040293.1||gnl|WG FFZ|manual_scaffold_10

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001751097	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Apr 28, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001751097

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Apr 28, 2021)

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, SCV001751097.1

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

#	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: Dec 24, 2023

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