NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=) AND not specified

Clinical significance:Likely benign (Last evaluated: Nov 19, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000612525.1

Allele description [Variation Report for NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=)]

NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=)

Gene:
MYH14:myosin heavy chain 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=)
HGVS:
  • NC_000019.10:g.50286559T>G
  • NG_011645.1:g.87932T>G
  • NM_001077186.2:c.4518T>G
  • NM_001145809.2:c.4617T>GMANE SELECT
  • NM_024729.3:c.4494T>G
  • NP_001070654.1:p.Arg1506=
  • NP_001139281.1:p.Arg1539=
  • NP_079005.3:p.Arg1498=
  • NC_000019.9:g.50789816T>G
  • NM_001145809.1:c.4617T>G
  • p.Arg1539Arg
Links:
dbSNP: rs375866139
NCBI 1000 Genomes Browser:
rs375866139
Molecular consequence:
  • NM_001077186.2:c.4518T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001145809.2:c.4617T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024729.3:c.4494T>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000712461Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Nov 19, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000712461.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Arg1539Arg in exon 34 of MYH14: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. In addition, it has been identified in 0.3 7% (26/7080) of African chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org; dbSNP rs375866139).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 6, 2021

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