NM_005340.7(HINT1):c.289G>A (p.Val97Met) AND Autosomal recessive axonal neuropathy with neuromyotonia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 29, 2018
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:: RCV000656698.2

Allele description [Variation Report for NM_005340.7(HINT1):c.289G>A (p.Val97Met)]

NM_005340.7(HINT1):c.289G>A (p.Val97Met)

Gene:

HINT1:histidine triad nucleotide binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.3

Genomic location:

Preferred name:

NM_005340.7(HINT1):c.289G>A (p.Val97Met)

HGVS:

NC_000005.10:g.131159539C>T
NG_032998.1:g.10810G>A
NM_005340.7:c.289G>AMANE SELECT
NP_005331.1:p.Val97Met
NC_000005.9:g.130495232C>T
NM_005340.6:c.289G>A
NR_024610.3:n.529G>A
NR_024611.3:n.375G>A
NR_073488.2:n.720G>A
NR_134494.2:n.685G>A
NR_134495.2:n.789G>A

Protein change:

V97M

Links:

dbSNP: rs1554088064

NCBI 1000 Genomes Browser:

rs1554088064

Molecular consequence:

NM_005340.7:c.289G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_024610.3:n.529G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_024611.3:n.375G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_073488.2:n.720G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134494.2:n.685G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134495.2:n.789G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

variation affecting protein [Variation Ontology: 0002]

Observations:

Condition(s)

Name:: Autosomal recessive axonal neuropathy with neuromyotonia (NMAN)
Synonyms:: MYOKYMIA, MYOTONIA, AND MUSCLE WASTING; Neuromyotonia and axonal neuropathy, autosomal recessive; Gamstorp-Wohlfart syndrome
Identifiers:: MONDO: MONDO:0007646; MedGen: C5700127; Orphanet: 324442; OMIM: 137200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000778825	Neuromuscular Group, Huashan Hospital, Fudan University	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 29, 2018)	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

SCV000778825

Neuromuscular Group, Huashan Hospital, Fudan University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 29, 2018)

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
Chinese Han population	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 Neuromuscular Group, Huashan Hospital, Fudan University, SCV000778825.2

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

Description

The NM_005340.6: c.289G>A variant in HINT1 was identified in a Chinese patient with autosomal recessive axonal neuropathy with neuromyotonia, segregated with the disease in his parents, and was absent from large genetic databases.

#	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: Jun 3, 2023

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