NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: Apr 4, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000770685.9

Allele description [Variation Report for NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)]

NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)

Genes:

MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16p13.11

Genomic location:

Preferred name:

NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)

Other names:

p.Gln1941Thrfs*20

HGVS:

NC_000016.10:g.15708837dup
NG_009299.1:g.153201dup
NG_021210.1:g.70571dup
NM_001040113.2:c.5819dup
NM_001040114.2:c.5808-4707dup
NM_001143979.2:c.947+11977dup
NM_002474.3:c.5787-4707dupMANE SELECT
NM_017668.3:c.947+11977dupMANE SELECT
NM_022844.3:c.5798dup
NP_001035202.1:p.Gln1941fs
NP_074035.1:p.Gln1934fs
LRG_1401t1:c.5787-4707dup
LRG_1401t2:c.5819dup
LRG_1401:g.153201dup
LRG_1401p2:p.Gln1941fs
NC_000016.9:g.15802686_15802687insG
NC_000016.9:g.15802694dup
NM_001040113.1:c.5819dupC

Protein change:

Q1934fs

Links:

dbSNP: rs747392139

NCBI 1000 Genomes Browser:

rs747392139

Molecular consequence:

NM_001040113.2:c.5819dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_022844.3:c.5798dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001040114.2:c.5808-4707dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001143979.2:c.947+11977dup - intron variant - [Sequence Ontology: SO:0001627]
NM_002474.3:c.5787-4707dup - intron variant - [Sequence Ontology: SO:0001627]
NM_017668.3:c.947+11977dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:: Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:: MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000902152	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 4, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001344540	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Dec 16, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000902152

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 4, 2023)

germline

clinical testing

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

SCV001344540

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Dec 16, 2019)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000902152.2

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

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

From Color Diagnostics, LLC DBA Color Health, SCV001344540.1

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

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

Last Updated: Jan 19, 2025

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