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NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) AND Peripheral neuropathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 10, 2021
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:
RCV001814014.2

Allele description [Variation Report for NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)]

NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)

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.110G>C (p.Arg37Pro)
HGVS:
  • NC_000005.10:g.131165096C>G
  • NG_032998.1:g.5253G>C
  • NM_005340.7:c.110G>CMANE SELECT
  • NP_005331.1:p.Arg37Pro
  • NC_000005.9:g.130500789C>G
  • NM_005340.5:c.110G>C
  • NM_005340.6:c.110G>C
  • NR_024610.3:n.161G>C
  • NR_024611.3:n.161G>C
  • NR_073488.2:n.161G>C
  • NR_134494.2:n.161G>C
  • NR_134495.2:n.161G>C
  • P49773:p.Arg37Pro
Protein change:
R37P; ARG37PRO
Links:
UniProtKB: P49773#VAR_069212; OMIM: 601314.0001; dbSNP: rs149782619
NCBI 1000 Genomes Browser:
rs149782619
Molecular consequence:
  • NM_005340.7:c.110G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024610.3:n.161G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_024611.3:n.161G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_073488.2:n.161G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134494.2:n.161G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134495.2:n.161G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Peripheral neuropathy
Identifiers:
MONDO: MONDO:0005244; MedGen: C0031117; Human Phenotype Ontology: HP:0009830

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001755654Kariminejad - Najmabadi Pathology & Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755654.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024