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NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr) AND Abnormality of the musculature

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 10, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001814269.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)]

NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)
HGVS:
  • NC_000017.11:g.7223853T>C
  • NG_007975.1:g.9020T>C
  • NG_008391.2:g.1198A>G
  • NG_033038.1:g.15692A>G
  • NM_000018.4:c.1310T>CMANE SELECT
  • NM_001033859.3:c.1244T>C
  • NM_001270447.2:c.1379T>C
  • NM_001270448.2:c.1082T>C
  • NP_000009.1:p.Met437Thr
  • NP_001029031.1:p.Met415Thr
  • NP_001257376.1:p.Met460Thr
  • NP_001257377.1:p.Met361Thr
  • NC_000017.10:g.7127172T>C
  • NC_000017.10:g.7127172T>C
  • NM_000018.3:c.1310T>C
Protein change:
M361T
Links:
dbSNP: rs2071345821
NCBI 1000 Genomes Browser:
rs2071345821
Molecular consequence:
  • NM_000018.4:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.3:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.2:c.1379T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.2:c.1082T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormality of the musculature
Identifiers:
MedGen: C4021745; Human Phenotype Ontology: HP:0003011

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001755482Kariminejad - Najmabadi Pathology & Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755482.1

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

Last Updated: Sep 29, 2024