NM_005896.4(IDH1):c.395G>A (p.Arg132His) AND Enchondromatosis

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: May 9, 2022
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:: RCV002227447.4

Allele description [Variation Report for NM_005896.4(IDH1):c.395G>A (p.Arg132His)]

NM_005896.4(IDH1):c.395G>A (p.Arg132His)

Gene:

IDH1:isocitrate dehydrogenase (NADP(+)) 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q34

Genomic location:

Preferred name:

NM_005896.4(IDH1):c.395G>A (p.Arg132His)

HGVS:

NC_000002.12:g.208248388C>T
NG_023319.2:g.22687G>A
NM_001282386.1:c.395G>A
NM_001282387.1:c.395G>A
NM_005896.4:c.395G>AMANE SELECT
NP_001269315.1:p.Arg132His
NP_001269316.1:p.Arg132His
NP_005887.2:p.Arg132His
LRG_610t2:c.395G>A
LRG_610t3:c.395G>A
LRG_610:g.22687G>A
LRG_610p2:p.Arg132His
LRG_610p3:p.Arg132His
NC_000002.11:g.209113112C>T
NM_005896.3:c.395G>A
O75874:p.Arg132His

Protein change:

R132H; ARG132HIS

Links:

UniProtKB: O75874#VAR_055455; OMIM: 147700.0001; dbSNP: rs121913500

NCBI 1000 Genomes Browser:

rs121913500

Molecular consequence:

NM_001282386.1:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282387.1:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005896.4:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Enchondromatosis
Synonyms:: ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE; Ollier disease; Dyschondroplasia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008145; MedGen: C0014084; Orphanet: 296; OMIM: 166000; Human Phenotype Ontology: HP:0005701

Recent activity

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hypothetical protein [Serratia marcescens]
hypothetical protein [Serratia marcescens]
gi|2198301090|ref|WP_239534420.1|

Protein
MULTISPECIES: SH3 domain-containing protein [Bacillus]
MULTISPECIES: SH3 domain-containing protein [Bacillus]
gi|2196957303|ref|WP_238985317.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002507195	Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 9, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002764259	Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002507195

Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 9, 2022)

germline

clinical testing

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

SCV002764259

Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

de novo

research

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	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

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 Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002507195.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine, SCV002764259.1

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

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

Last Updated: Oct 20, 2024

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