NM_000255.4(MMUT):c.1261G>A (p.Val421Met) AND Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2021
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:: RCV001835192.1

Allele description [Variation Report for NM_000255.4(MMUT):c.1261G>A (p.Val421Met)]

NM_000255.4(MMUT):c.1261G>A (p.Val421Met)

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.1261G>A (p.Val421Met)

HGVS:

NC_000006.12:g.49451537C>T
NG_007100.1:g.16603G>A
NM_000255.4:c.1261G>AMANE SELECT
NP_000246.2:p.Val421Met
NC_000006.11:g.49419250C>T
NC_000006.11:g.49419250C>T
NM_000255.3:c.1261G>A

Protein change:

V421M

Links:

dbSNP: rs746763824

NCBI 1000 Genomes Browser:

rs746763824

Molecular consequence:

NM_000255.4:c.1261G>A - 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

Eschweilera sp. A-AAA-2006 NADH dehydrogenase subunit F (ndhF) gene, partial cds...
Eschweilera sp. A-AAA-2006 NADH dehydrogenase subunit F (ndhF) gene, partial cds; chloroplast
gi|90856109|gb|DQ388256.1|

Nucleotide
protein MOTHER of FT and TFL1-like [Hibiscus syriacus]
protein MOTHER of FT and TFL1-like [Hibiscus syriacus]
gi|1965339883|ref|XP_039052793.1|

Protein
Functional subnetwork modules and discovery of hub genes with signal peptide usi...
Functional subnetwork modules and discovery of hub genes with signal peptide using RNA-Seq (hybrid 33k44 vs. inbred B73)
Functional subnetwork modules and discovery of hub genes with signal peptide using RNA-Seq (hybrid 33k44 vs. inbred B73)

BioProject
Porphyromonas catoniae ATCC 51270 ctg7180000005743, whole genome shotgun sequenc...
Porphyromonas catoniae ATCC 51270 ctg7180000005743, whole genome shotgun sequence
gi|763311106|ref|NZ_JDFF01000024.1| WGS:NZ_JDFF01|ctg7180000005743

Nucleotide
Protein Family Models for Protein (Select 1175200516) (4)
Protein Family Models

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
SCV002077378	Natera, Inc.	no assertion criteria provided	Uncertain significance (Mar 30, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002077378

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Mar 30, 2021)

germline

clinical testing

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

Details of each submission

From Natera, Inc., SCV002077378.1

#	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: Oct 8, 2024

ClinVar

Relating variation to medicine