NM_016239.4(MYO15A):c.5305_5306dup (p.Val1770fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 3, 2017
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:: RCV000598723.1

Allele description [Variation Report for NM_016239.4(MYO15A):c.5305_5306dup (p.Val1770fs)]

NM_016239.4(MYO15A):c.5305_5306dup (p.Val1770fs)

Gene:

MYO15A:myosin XVA [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_016239.4(MYO15A):c.5305_5306dup (p.Val1770fs)

HGVS:

NC_000017.11:g.18140608AC[3]
NG_011634.2:g.36903AC[3]
NM_016239.4:c.5305_5306dupMANE SELECT
NP_057323.3:p.Val1770fs
NC_000017.10:g.18043922AC[3]

Protein change:

V1770fs

Links:

dbSNP: rs1555544187

NCBI 1000 Genomes Browser:

rs1555544187

Molecular consequence:

NM_016239.4:c.5305_5306dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000710070	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Oct 3, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000710070

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Oct 3, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000710070.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.5305_5306dupAC pathogenic variant in the MYO15A gene causes a frameshift starting with codon Valine 1770, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 28 of the new reading frame, denoted p.Val1770LeufsX28. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5305_5306dupAC variant is not observed in large population cohorts (Lek et al., 2016).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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