NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile) AND Slowed nerve conduction velocity, autosomal dominant

Clinical significance:Likely benign (Last evaluated: Mar 10, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000625168.2

Allele description [Variation Report for NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile)]

NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile)

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.2812G>A (p.Val938Ile)
HGVS:
  • NC_000008.11:g.1928541G>A
  • NG_008480.1:g.109559G>A
  • NM_001308152.2:c.2698G>A
  • NM_001308153.2:c.2884G>A
  • NM_014629.4:c.2812G>AMANE SELECT
  • NP_001295081.1:p.Val900Ile
  • NP_001295082.1:p.Val962Ile
  • NP_055444.2:p.Val938Ile
  • LRG_234:g.109559G>A
  • NC_000008.10:g.1876707G>A
  • NM_001308153.1:c.2884G>A
  • NM_014629.3:c.2812G>A
Protein change:
V900I
Links:
dbSNP: rs61752020
NCBI 1000 Genomes Browser:
rs61752020
Molecular consequence:
  • NM_001308152.2:c.2698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308153.2:c.2884G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014629.4:c.2812G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Slowed nerve conduction velocity, autosomal dominant (SNCV)
Identifiers:
MONDO: MONDO:0011998; MedGen: C1842357; Orphanet: 140481; OMIM: 608236

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000743960Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensuscriteria provided, single submitter
Likely benign
(Mar 10, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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