NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe) AND Autosomal dominant slowed nerve conduction velocity

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 29, 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:: RCV000757006.13

Allele description [Variation Report for NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe)]

NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe)

Gene:

ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.3

Genomic location:

Preferred name:

NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe)

HGVS:

NC_000008.11:g.1885635G>C
NG_008480.1:g.66653G>C
NM_001308152.2:c.996G>C
NM_001308153.2:c.1185G>C
NM_014629.4:c.1110G>CMANE SELECT
NP_001295081.1:p.Leu332Phe
NP_001295082.1:p.Leu395Phe
NP_055444.2:p.Leu370Phe
LRG_234t1:c.1110G>C
LRG_234:g.66653G>C
NC_000008.10:g.1833801G>C
NM_014629.2:c.1110G>C
NM_014629.3:c.1110G>C

Protein change:

L332F

Links:

dbSNP: rs9657362

NCBI 1000 Genomes Browser:

rs9657362

Molecular consequence:

NM_001308152.2:c.996G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001308153.2:c.1185G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014629.4:c.1110G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal dominant slowed nerve conduction velocity
Identifiers:: MONDO: MONDO:0011998; MedGen: C1842357; Orphanet: 140481; OMIM: 608236

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000885027	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 29, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000885027

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 29, 2023)

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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885027.6

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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