NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) AND not provided

Clinical significance:Likely benign (Last evaluated: Mar 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001091563.3

Allele description [Variation Report for NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)]

NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)

Gene:
MMADHC:metabolism of cobalamin associated D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.2
Genomic location:
Preferred name:
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
Other names:
p.R216G:CGA>GGA
HGVS:
  • NC_000002.12:g.149571135G>C
  • NG_009189.1:g.21682C>G
  • NM_015702.3:c.646C>GMANE SELECT
  • NP_056517.1:p.Arg216Gly
  • NC_000002.11:g.150427649G>C
  • NM_015702.2:c.646C>G
Protein change:
R216G
Links:
dbSNP: rs141093638
NCBI 1000 Genomes Browser:
rs141093638
Molecular consequence:
  • NM_015702.3:c.646C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001247688CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Mar 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247688.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2021

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