NM_001985.2(ETFB):c.447C>T (p.Phe149=) AND Glutaric aciduria, type 2

Clinical significance:Benign (Last evaluated: Jan 5, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000526528.2

Allele description [Variation Report for NM_001985.2(ETFB):c.447C>T (p.Phe149=)]

NM_001985.2(ETFB):c.447C>T (p.Phe149=)

Gene:
ETFB:electron transfer flavoprotein subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.41
Genomic location:
Preferred name:
NM_001985.2(ETFB):c.447C>T (p.Phe149=)
Other names:
p.F149F:TTC>TTT
HGVS:
  • NC_000019.10:g.51347050G>A
  • NG_007115.1:g.24369C>T
  • NM_001985.2:c.447C>T
  • NP_001976.1:p.Phe149=
  • NC_000019.9:g.51850304G>A
Links:
dbSNP: rs144640661
NCBI 1000 Genomes Browser:
rs144640661
Molecular consequence:
  • NM_001985.2:c.447C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Glutaric aciduria, type 2 (MADD)
Synonyms:
GA II; GLUTARIC ACIDURIA II; Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Identifiers:
MedGen: C0268596; Orphanet: 26791; OMIM: 231680

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000631950Invitaecriteria provided, single submitter
Benign
(Jan 5, 2018)
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

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.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000631950.2

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

Last Updated: Mar 30, 2019

Support Center