NM_005340.7(HINT1):c.111+6_111+7insC AND Autosomal recessive axonal neuropathy with neuromyotonia

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Jan 30, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000538978.13

Allele description [Variation Report for NM_005340.7(HINT1):c.111+6_111+7insC]

NM_005340.7(HINT1):c.111+6_111+7insC

Gene:

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

Variant type:

Insertion

Cytogenetic location:

5q23.3

Genomic location:

Preferred name:

NM_005340.7(HINT1):c.111+6_111+7insC

HGVS:

NC_000005.10:g.131165088_131165089insG
NG_032998.1:g.5260_5261insC
NM_005340.7:c.111+6_111+7insCMANE SELECT
NC_000005.9:g.130500781_130500782insG
NM_005340.6:c.111+6_111+7insC
NR_024611.3:n.168_169insC
NR_073488.2:n.168_169insC

Links:

dbSNP: rs770851222

NCBI 1000 Genomes Browser:

rs770851222

Molecular consequence:

NM_005340.7:c.111+6_111+7insC - intron variant - [Sequence Ontology: SO:0001627]
NR_024611.3:n.168_169insC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_073488.2:n.168_169insC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000658506	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 30, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003799482	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Benign (Mar 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000658506

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 30, 2024)

germline

clinical testing

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

SCV003799482

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Benign
(Mar 1, 2022)

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000658506.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV003799482.2

#	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 5, 2024

ClinVar

Relating variation to medicine