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NC_000017.11:g.10639475del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 30, 2022
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:
RCV002638384.2

Allele description [Variation Report for NC_000017.11:g.10639475del]

NC_000017.11:g.10639475del

Gene:
MYH3:myosin heavy chain 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NC_000017.11:g.10639475del
HGVS:
  • NC_000017.11:g.10639475del
  • NG_011537.1:g.22825del
  • NC_000017.10:g.10542791del
  • NC_000017.10:g.10542792del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003522151Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 30, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.

Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):669. doi: 10.1016/j.ajhg.2019.08.007.

PubMed [citation]
PMID:
29805041
PMCID:
PMC5992117

Clinical genome sequencing in an unbiased pediatric cohort.

Thiffault I, Farrow E, Zellmer L, Berrios C, Miller N, Gibson M, Caylor R, Jenkins J, Faller D, Soden S, Saunders C.

Genet Med. 2019 Feb;21(2):303-310. doi: 10.1038/s41436-018-0075-8. Epub 2018 Jul 16.

PubMed [citation]
PMID:
30008475
PMCID:
PMC6752301
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003522151.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Val976Leufs*11) in the MYH3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYH3 are known to be pathogenic (PMID: 29805041, 30008475). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYH3-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024