NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) AND Methylcrotonyl-CoA carboxylase deficiency

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:
RCV001275512.1

Allele description [Variation Report for NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)]

NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)

Gene:
MCCC1:methylcrotonyl-CoA carboxylase subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.1
Genomic location:
Preferred name:
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
HGVS:
  • NC_000003.12:g.183057321T>C
  • NG_008100.1:g.47257A>G
  • NM_001293273.1:c.512A>G
  • NM_001363880.1:c.536A>G
  • NM_020166.5:c.863A>GMANE SELECT
  • NP_001280202.1:p.Glu171Gly
  • NP_001350809.1:p.Glu179Gly
  • NP_064551.3:p.Glu288Gly
  • NC_000003.11:g.182775109T>C
  • NM_020166.4:c.863A>G
  • NR_120639.1:n.777A>G
  • NR_120640.1:n.1530A>G
Protein change:
E171G
Links:
dbSNP: rs746500530
NCBI 1000 Genomes Browser:
rs746500530
Molecular consequence:
  • NM_001293273.1:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363880.1:c.536A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020166.5:c.863A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_120639.1:n.777A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_120640.1:n.1530A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Methylcrotonyl-CoA carboxylase deficiency
Synonyms:
Deficiency of methylcrotonoyl-CoA carboxylase; 3 Methylcrotonylglycinuria; 3-MCC Deficiency
Identifiers:
MONDO: MONDO:0018950; MedGen: C4551505; OMIM: PS210200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001460697Natera, 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., SCV001460697.1

#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: Apr 18, 2021

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