NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) AND Methylmalonic acidemia with homocystinuria cblC

Clinical significance:Uncertain significance (Last evaluated: Sep 16, 2020)

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:
RCV001273218.1

Allele description [Variation Report for NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)]

NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)

Gene:
MMACHC:metabolism of cobalamin associated C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
Other names:
p.E106K:GAG>AAG
HGVS:
  • NC_000001.11:g.45508251G>A
  • NG_013378.1:g.13068G>A
  • NM_001330540.2:c.145G>A
  • NM_015506.3:c.316G>AMANE SELECT
  • NP_001317469.1:p.Glu49Lys
  • NP_056321.2:p.Glu106Lys
  • NC_000001.10:g.45973923G>A
  • NM_015506.2:c.316G>A
Protein change:
E106K
Links:
dbSNP: rs201617713
NCBI 1000 Genomes Browser:
rs201617713
Molecular consequence:
  • NM_001330540.2:c.145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015506.3:c.316G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Methylmalonic acidemia with homocystinuria cblC
Synonyms:
Methylmalonic aciduria with homocystinuria cblC type
Identifiers:
MedGen: CN239025

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001456010Natera, Inc.no assertion criteria providedUncertain significance
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001456010.1

#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: Oct 6, 2021

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