NM_000257.4(MYH7):c.4285_4287dup (p.Met1429dup) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 26, 2018
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:: RCV001266511.2

Allele description [Variation Report for NM_000257.4(MYH7):c.4285_4287dup (p.Met1429dup)]

NM_000257.4(MYH7):c.4285_4287dup (p.Met1429dup)

Genes:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.4285_4287dup (p.Met1429dup)

HGVS:

NC_000014.9:g.23417571_23417573dup
NG_007884.1:g.23091_23093dup
NM_000257.4:c.4285_4287dupMANE SELECT
NP_000248.2:p.Met1429dup
LRG_384t1:c.4285_4287dup
LRG_384:g.23091_23093dup
NC_000014.8:g.23886780_23886782dup
NM_000257.2:c.4285_4287dupATG
NR_126491.1:n.852_854dup

Links:

dbSNP: rs1892274161

NCBI 1000 Genomes Browser:

rs1892274161

Molecular consequence:

NM_000257.4:c.4285_4287dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_126491.1:n.852_854dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001444686	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Uncertain significance (Dec 26, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444686

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Uncertain significance
(Dec 26, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian/African American	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001444686.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian/African American	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Jan 7, 2023

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