U.S. flag

An official website of the United States government

NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) AND Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001271724.1

Allele description [Variation Report for NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)]

NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)

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.313T>C (p.Trp105Arg)
HGVS:
  • NC_000006.12:g.49459154A>G
  • NG_007100.1:g.8986T>C
  • NM_000255.4:c.313T>CMANE SELECT
  • NP_000246.2:p.Trp105Arg
  • NC_000006.11:g.49426867A>G
  • NM_000255.1:c.313T>C
  • NP_000246.1:p.Try105Arg
  • P22033:p.Trp105Arg
Protein change:
W105R; TRP105ARG
Links:
UniProtKB: P22033#VAR_004410; OMIM: 609058.0002; dbSNP: rs121918249
NCBI 1000 Genomes Browser:
rs121918249
Molecular consequence:
  • NM_000255.4:c.313T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001453072Natera, Inc.
no assertion criteria provided
Pathogenic
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001453072.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 11, 2023