U.S. flag

An official website of the United States government

NM_002474.3(MYH11):c.3379C>G (p.Leu1127Val) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 25, 2023
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:
RCV003302831.4

Allele description [Variation Report for NM_002474.3(MYH11):c.3379C>G (p.Leu1127Val)]

NM_002474.3(MYH11):c.3379C>G (p.Leu1127Val)

Gene:
MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.11
Genomic location:
Preferred name:
NM_002474.3(MYH11):c.3379C>G (p.Leu1127Val)
HGVS:
  • NC_000016.10:g.15735493G>C
  • NG_009299.1:g.126538C>G
  • NM_001040113.2:c.3400C>G
  • NM_001040114.2:c.3400C>G
  • NM_002474.3:c.3379C>GMANE SELECT
  • NM_022844.3:c.3379C>G
  • NP_001035202.1:p.Leu1134Val
  • NP_001035203.1:p.Leu1134Val
  • NP_002465.1:p.Leu1127Val
  • NP_074035.1:p.Leu1127Val
  • LRG_1401t1:c.3379C>G
  • LRG_1401t2:c.3400C>G
  • LRG_1401:g.126538C>G
  • LRG_1401p1:p.Leu1127Val
  • LRG_1401p2:p.Leu1134Val
  • NC_000016.9:g.15829350G>C
  • NM_001040113.1:c.3400C>G
  • NM_002474.2:c.3379C>G
Protein change:
L1127V
Links:
dbSNP: rs886038854
NCBI 1000 Genomes Browser:
rs886038854
Molecular consequence:
  • NM_001040113.2:c.3400C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040114.2:c.3400C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002474.3:c.3379C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022844.3:c.3379C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003997502Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 25, 2023) 		germlineclinical testing

Citation Link,

SCV004832276All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Aug 23, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided108544not providedclinical 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 Ambry Genetics, SCV003997502.2

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

Description

The c.3379C>G (p.L1127V) alteration is located in exon 26 (coding exon 25) of the MYH11 gene. This alteration results from a C to G substitution at nucleotide position 3379, causing the leucine (L) at amino acid position 1127 to be replaced by a valine (V). 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

From All of Us Research Program, National Institutes of Health, SCV004832276.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This missense variant replaces leucine with valine at codon 1134 of the MYH11 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH11-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024