NM_000255.4(MMUT):c.284C>G (p.Pro95Arg) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000203360.3

Allele description [Variation Report for NM_000255.4(MMUT):c.284C>G (p.Pro95Arg)]

NM_000255.4(MMUT):c.284C>G (p.Pro95Arg)

Gene:

MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.3

Genomic location:

Preferred name:

NM_000255.4(MMUT):c.284C>G (p.Pro95Arg)

HGVS:

NC_000006.12:g.49459183G>C
NG_007100.1:g.8957C>G
NM_000255.4:c.284C>GMANE SELECT
NP_000246.2:p.Pro95Arg
NC_000006.11:g.49426896G>C
NM_000255.1:c.284C>G
NP_000246.1:p.Pro95Arg
P22033:p.Pro95Arg

Protein change:

P95R

Links:

UniProtKB: P22033#VAR_026595; dbSNP: rs190834116

NCBI 1000 Genomes Browser:

rs190834116

Molecular consequence:

NM_000255.4:c.284C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MAMM)
Synonyms:: Methylmalonic aciduria, mut type
Identifiers:: MONDO: MONDO:0009612; MedGen: C1855114; OMIM: 251000

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
SCV000258493	GeneReviews	no classification provided	not provided	germline	literature only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000258493

GeneReviews

no classification provided

not provided

germline

literature only

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	literature only

Details of each submission

From GeneReviews, SCV000258493.2

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

#	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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine