NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu) AND Hypomyelinating leukodystrophy 13

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 9, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000210461.2

Allele description [Variation Report for NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu)]

NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu)

Gene:

HIKESHI:heat shock protein nuclear import factor hikeshi [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q14.2

Genomic location:

Preferred name:

NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu)

HGVS:

NC_000011.10:g.86306374G>C
NG_046865.1:g.9164G>C
NM_001322404.2:c.160G>C
NM_001322407.2:c.43G>C
NM_001322409.2:c.43G>C
NM_016401.4:c.160G>CMANE SELECT
NP_001309333.1:p.Val54Leu
NP_001309336.1:p.Val15Leu
NP_001309338.1:p.Val15Leu
NP_057485.2:p.Val54Leu
NC_000011.9:g.86017416G>C
NM_016401.3:c.160G>C
NR_136324.2:n.369G>C
Q53FT3:p.Val54Leu

Protein change:

V15L; VAL54LEU

Links:

UniProtKB: Q53FT3#VAR_076411; OMIM: 614908.0001; dbSNP: rs202003795

NCBI 1000 Genomes Browser:

rs202003795

Molecular consequence:

NM_001322404.2:c.160G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322407.2:c.43G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001322409.2:c.43G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_016401.4:c.160G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_136324.2:n.369G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hypomyelinating leukodystrophy 13
Identifiers:: MONDO: MONDO:0014813; MedGen: C4225170; OMIM: 616881

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000266567	OMIM	no assertion criteria provided	Pathogenic (Aug 9, 2017)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000266567

OMIM

no assertion criteria provided

Pathogenic
(Aug 9, 2017)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

Edvardson S, Kose S, Jalas C, Fattal-Valevski A, Watanabe A, Ogawa Y, Mamada H, Fedick AM, Ben-Shachar S, Treff NR, Shaag A, Bale S, Gärtner J, Imamoto N, Elpeleg O.

J Med Genet. 2016 Feb;53(2):132-7. doi: 10.1136/jmedgenet-2015-103232. Epub 2015 Nov 6.

PubMed [citation]

PMID:: 26545878

Details of each submission

From OMIM, SCV000266567.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 6 children from 3 families of Ashkenazi Jewish descent with hypomyelinating leukodystrophy-13 (HLD13; 616881), Edvardson et al. (2016) identified a homozygous c.160G-C transversion (c.160G-C, NM_016401) in the C11ORF73 gene, resulting in a val54-to-leu (V54L) substitution at a highly conserved residue. The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing, was filtered against the dbSNP (build 137) database. It segregated with the disorder in the families and was estimated to be carried by about 1 in 200 Ashkenazi Jewish individuals. Mutant protein was undetectable in patient fibroblasts, suggesting that it is readily degraded.

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

Last Updated: Mar 10, 2024

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