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NM_001163735.2(MYO19):c.428G>A (p.Arg143His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 2024
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:
RCV004456292.1

Allele description [Variation Report for NM_001163735.2(MYO19):c.428G>A (p.Arg143His)]

NM_001163735.2(MYO19):c.428G>A (p.Arg143His)

Gene:
MYO19:myosin XIX [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_001163735.2(MYO19):c.428G>A (p.Arg143His)
HGVS:
  • NC_000017.11:g.36515977C>T
  • NM_001033580.3:c.428G>A
  • NM_001163735.2:c.428G>AMANE SELECT
  • NM_025109.6:c.428G>A
  • NP_001028752.1:p.Arg143His
  • NP_001157207.1:p.Arg143His
  • NP_079385.2:p.Arg143His
  • NC_000017.10:g.34871820C>T
  • NM_001163735.1:c.428G>A
Protein change:
R143H
Molecular consequence:
  • NM_001033580.3:c.428G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163735.2:c.428G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025109.6:c.428G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004949405Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 28, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004949405.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.428G>A (p.R143H) alteration is located in exon 7 (coding exon 5) of the MYO19 gene. This alteration results from a G to A substitution at nucleotide position 428, causing the arginine (R) at amino acid position 143 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024