NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser) AND not provided

Clinical significance:Likely benign (Last evaluated: Dec 31, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000898608.3

Allele description [Variation Report for NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser)]

NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser)

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.4705G>T (p.Ala1569Ser)
HGVS:
  • NC_000019.10:g.50286647G>T
  • NG_011645.1:g.88020G>T
  • NM_001077186.2:c.4606G>T
  • NM_001145809.2:c.4705G>TMANE SELECT
  • NM_024729.3:c.4582G>T
  • NP_001070654.1:p.Ala1536Ser
  • NP_001139281.1:p.Ala1569Ser
  • NP_079005.3:p.Ala1528Ser
  • NC_000019.9:g.50789904G>T
  • NM_001145809.1:c.4705G>T
Protein change:
A1528S
Links:
dbSNP: rs145522874
NCBI 1000 Genomes Browser:
rs145522874
Molecular consequence:
  • NM_001077186.2:c.4606G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145809.2:c.4705G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024729.3:c.4582G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001042824Invitaecriteria provided, single submitter
Likely benign
(Dec 31, 2019)
germlineclinical testing

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

SCV001794136GeneDxno assertion criteria provided
Likely benign
(Aug 4, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
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. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001042824.2

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

From GeneDx, SCV001794136.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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