NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Sep 25, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000182533.5

Allele description [Variation Report for NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys)]

NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

Preferred name:

NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys)

Other names:

p.E1861K:GAG>AAG

HGVS:

NC_000016.10:g.15715196C>T
NG_009299.1:g.146835G>A
NG_021210.1:g.76930C>T
NM_001040113.2:c.5602G>A
NM_001040114.2:c.5602G>A
NM_001143979.2:c.948-8995C>T
NM_002474.3:c.5581G>AMANE SELECT
NM_017668.3:c.948-8995C>TMANE SELECT
NM_022844.3:c.5581G>A
NP_001035202.1:p.Glu1868Lys
NP_001035203.1:p.Glu1868Lys
NP_002465.1:p.Glu1861Lys
NP_074035.1:p.Glu1861Lys
LRG_1401t1:c.5581G>A
LRG_1401t2:c.5602G>A
LRG_1401:g.146835G>A
LRG_1401p1:p.Glu1861Lys
LRG_1401p2:p.Glu1868Lys
NC_000016.9:g.15809053C>T
NM_001040113.1:c.5602G>A
NM_001040113.2:c.5602G>A
NM_002474.2:c.5581G>A

Protein change:

E1861K

Links:

dbSNP: rs139418145

NCBI 1000 Genomes Browser:

rs139418145

Molecular consequence:

NM_001143979.2:c.948-8995C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_017668.3:c.948-8995C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001040113.2:c.5602G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001040114.2:c.5602G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002474.3:c.5581G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022844.3:c.5581G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Gm28301 predicted gene 28301 [Mus musculus]
Gm28301 predicted gene 28301 [Mus musculus]
Gene ID:102635002

Gene
Gm28301 AND (alive[prop]) (1)
Gene
Mus musculus HD domain containing 3 (Hddc3), transcript variant 1, mRNA
Mus musculus HD domain containing 3 (Hddc3), transcript variant 1, mRNA
gi|2465537881|ref|NM_026812.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000234881	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 22, 2019)	germline	clinical testing	Citation Link,
SCV003817176	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 25, 2022)	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

SCV000234881

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 22, 2019)

germline

clinical testing

Citation Link,

SCV003817176

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 25, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
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 GeneDx, SCV000234881.9

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

#	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

From Revvity Omics, Revvity, SCV003817176.2

#	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

Last Updated: Sep 29, 2024

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