NM_021729.6(VPS11):c.2615_2620del (p.Arg872_Ala873del) AND Hypomyelinating leukodystrophy 12

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 7, 2017
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:: RCV001253440.1

Allele description [Variation Report for NM_021729.6(VPS11):c.2615_2620del (p.Arg872_Ala873del)]

NM_021729.6(VPS11):c.2615_2620del (p.Arg872_Ala873del)

Gene:

VPS11:VPS11 core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_021729.6(VPS11):c.2615_2620del (p.Arg872_Ala873del)

HGVS:

NC_000011.10:g.119081268_119081273del
NG_008093.1:g.1392_1397del
NG_029670.1:g.18487_18492del
NG_029670.2:g.18487_18492del
NM_001290185.2:c.2585_2590del
NM_001378218.1:c.2627_2632del
NM_001378219.1:c.2627_2632del
NM_001378220.1:c.2600_2605del
NM_001378221.1:c.2597_2602del
NM_021729.6:c.2615_2620delMANE SELECT
NP_001277114.1:p.Arg862_Ala863del
NP_001365147.1:p.Arg876_Ala877del
NP_001365148.1:p.Arg876_Ala877del
NP_001365149.1:p.Arg867_Ala868del
NP_001365150.1:p.Arg866_Ala867del
NP_068375.3:p.Arg872_Ala873del
LRG_1076:g.1392_1397del
NC_000011.9:g.118951978_118951983del
NM_021729.4:c.2615_2620del
NR_165447.1:n.2762_2767del
NR_165448.1:n.2199_2204del
NR_165449.1:n.2554_2559del
NR_165450.1:n.2485_2490del
NR_165451.1:n.2306_2311del
NR_165452.1:n.2790_2795del
NR_165453.1:n.2566_2571del
NR_165454.1:n.2373_2378del

Links:

dbSNP: rs1945840205

NCBI 1000 Genomes Browser:

rs1945840205

Molecular consequence:

NM_001290185.2:c.2585_2590del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001378218.1:c.2627_2632del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001378219.1:c.2627_2632del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001378220.1:c.2600_2605del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001378221.1:c.2597_2602del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_021729.6:c.2615_2620del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_165447.1:n.2762_2767del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165448.1:n.2199_2204del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165449.1:n.2554_2559del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165450.1:n.2485_2490del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165451.1:n.2306_2311del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165452.1:n.2790_2795del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165453.1:n.2566_2571del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165454.1:n.2373_2378del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Hypomyelinating leukodystrophy 12
Identifiers:: MONDO: MONDO:0014732; MedGen: C4225247; OMIM: 616683

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ABRA actin binding Rho activating protein [Homo sapiens]
ABRA actin binding Rho activating protein [Homo sapiens]
Gene ID:137735

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001429147	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 7, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001429147

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 7, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

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

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001429147.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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