NM_000481.4(AMT):c.631G>A (p.Glu211Lys) AND not specified

Clinical significance:Benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001573069.1

Allele description [Variation Report for NM_000481.4(AMT):c.631G>A (p.Glu211Lys)]

NM_000481.4(AMT):c.631G>A (p.Glu211Lys)

Gene:
AMT:aminomethyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
HGVS:
  • NC_000003.12:g.49419325C>T
  • NG_015986.1:g.8354G>A
  • NM_000481.3:c.631G>A
  • NM_000481.4:c.631G>AMANE SELECT
  • NM_001164710.2:c.499G>A
  • NM_001164711.2:c.463G>A
  • NM_001164712.2:c.631G>A
  • NP_000472.2:p.Glu211Lys
  • NP_000472.2:p.Glu211Lys
  • NP_001158182.1:p.Glu167Lys
  • NP_001158183.1:p.Glu155Lys
  • NP_001158184.1:p.Glu211Lys
  • LRG_537t1:c.631G>A
  • LRG_537:g.8354G>A
  • LRG_537p1:p.Glu211Lys
  • NC_000003.11:g.49456758C>T
  • NR_028435.2:n.640G>A
Protein change:
E155K
Links:
dbSNP: rs116192290
NCBI 1000 Genomes Browser:
rs116192290
Molecular consequence:
  • NM_000481.3:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000481.4:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164710.2:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164711.2:c.463G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164712.2:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_028435.2:n.640G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001798398Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798398.1

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

Last Updated: Oct 6, 2021

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