NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 6, 2016
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:: RCV000186011.2

Allele description [Variation Report for NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)]

NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)

Gene:

MMAA:metabolism of cobalamin associated A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.21

Genomic location:

Preferred name:

NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)

HGVS:

NC_000004.12:g.145639526C>A
NG_007536.2:g.45485C>A
NM_172250.3:c.387C>AMANE SELECT
NP_758454.1:p.Tyr129Ter
LRG_1301t1:c.387C>A
LRG_1301:g.45485C>A
LRG_1301p1:p.Tyr129Ter
NC_000004.11:g.146560678C>A
NG_007536.1:g.25229C>A
NM_172250.2:c.387C>A
p.Y129X

Protein change:

Y129*

Links:

dbSNP: rs796051992

NCBI 1000 Genomes Browser:

rs796051992

Molecular consequence:

NM_172250.3:c.387C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 [Danio reri...
atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 [Danio rerio]
Gene ID:568671

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000238973	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jun 6, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000238973

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jun 6, 2016)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000238973.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The Y129X nonsense variant in the MMAA gene has been reported previously in association with methylmalonic acidemia (MMA), cblA type in an individual who was homozygous for the Y129X variant (Lerner-Ellis et al., 2004). This variant is predicted to cause loss of normal protein function either through premature protein truncation or nonsense-mediated mRNA decay.

#	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: Jun 23, 2024

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