NM_004491.5(ARHGAP35):c.4294T>C (p.Cys1432Arg) AND Anophthalmia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 2, 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:: RCV002460355.2

Allele description [Variation Report for NM_004491.5(ARHGAP35):c.4294T>C (p.Cys1432Arg)]

NM_004491.5(ARHGAP35):c.4294T>C (p.Cys1432Arg)

Gene:

ARHGAP35:Rho GTPase activating protein 35 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_004491.5(ARHGAP35):c.4294T>C (p.Cys1432Arg)

HGVS:

NC_000019.10:g.47000482T>C
NG_047014.2:g.144486T>C
NM_004491.5:c.4294T>CMANE SELECT
NP_004482.4:p.Cys1432Arg
NC_000019.9:g.47503739T>C
NM_004491.4:c.4294T>C

Protein change:

C1432R

Molecular consequence:

NM_004491.5:c.4294T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Anophthalmia
Identifiers:: MedGen: C0003119; Human Phenotype Ontology: HP:0000528

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002605064	Human Developmental Genetics Laboratory, Medical College of Wisconsin	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 2, 2022)	paternal	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 36450800

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002605064

Human Developmental Genetics Laboratory, Medical College of Wisconsin

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 2, 2022)

paternal

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes.

Reis LM, Chassaing N, Bardakjian T, Thompson S, Schneider A, Semina EV.

Eur J Hum Genet. 2023 Mar;31(3):363-367. doi: 10.1038/s41431-022-01246-z. Epub 2022 Dec 1.

PubMed [citation]

PMID:: 36450800
PMCID:: PMC9995503

Details of each submission

From Human Developmental Genetics Laboratory, Medical College of Wisconsin, SCV002605064.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

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

Last Updated: Dec 3, 2022

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