U.S. flag

An official website of the United States government

NM_000429.3(MAT1A):c.163G>A (p.Ala55Thr) AND Hypermethioninemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 17, 2021
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:
RCV002287705.1

Allele description [Variation Report for NM_000429.3(MAT1A):c.163G>A (p.Ala55Thr)]

NM_000429.3(MAT1A):c.163G>A (p.Ala55Thr)

Gene:
MAT1A:methionine adenosyltransferase 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.3
Genomic location:
Preferred name:
NM_000429.3(MAT1A):c.163G>A (p.Ala55Thr)
HGVS:
  • NC_000010.11:g.80285518C>T
  • NG_008083.1:g.9161G>A
  • NM_000429.2:c.163G>A
  • NM_000429.3:c.163G>AMANE SELECT
  • NP_000420.1:p.Ala55Thr
  • NC_000010.10:g.82045274C>T
Protein change:
A55T
Molecular consequence:
  • NM_000429.3:c.163G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hypermethioninemia
Identifiers:
MONDO: MONDO:0000351; MedGen: C4048705; Human Phenotype Ontology: HP:0003235

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002577848Institute of Human Genetics, University Hospital Muenster
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Dec 17, 2021)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

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 Institute of Human Genetics, University Hospital Muenster, SCV002577848.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG categories: PM2,PP3,BP1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedbloodnot provided1not providednot providednot provided

Last Updated: Apr 20, 2024