NM_014362.4(HIBCH):c.2T>C (p.Met1Thr) AND Beta-hydroxyisobutyryl-CoA deacylase deficiency

Clinical significance:Benign (Last evaluated: Aug 10, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001509616.2

Allele description [Variation Report for NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)]

NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)

Gene:
HIBCH:3-hydroxyisobutyryl-CoA hydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)
HGVS:
  • NC_000002.12:g.190319749A>G
  • NG_017062.1:g.5297T>C
  • NM_014362.4:c.2T>CMANE SELECT
  • NM_198047.3:c.2T>C
  • NP_055177.2:p.Met1Thr
  • NP_932164.1:p.Met1Thr
  • NC_000002.11:g.191184475A>G
  • NM_014362.3:c.2T>C
Protein change:
M1T
Links:
dbSNP: rs291466
NCBI 1000 Genomes Browser:
rs291466
Molecular consequence:
  • NM_014362.4:c.2T>C - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_198047.3:c.2T>C - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_014362.4:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198047.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Beta-hydroxyisobutyryl-CoA deacylase deficiency (HIBCHD)
Synonyms:
HIBCH DEFICIENCY; METHACRYLIC ACID TOXICITY; METHACRYLIC ACIDURIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009603; MedGen: C0342738; Orphanet: 88639; OMIM: 250620

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001716437Invitaecriteria provided, single submitter
Benign
(Nov 20, 2020)
germlineclinical testing

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

SCV001934144Nilou-Genome Labcriteria provided, single submitter
Benign
(Aug 10, 2021)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

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 Invitae, SCV001716437.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Nilou-Genome Lab, SCV001934144.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 25, 2021

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