U.S. flag

An official website of the United States government

NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) AND Hypertrophic cardiomyopathy 10

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 7, 2023
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:
RCV000795137.7

Allele description [Variation Report for NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)]

NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)

Gene:
MYL2:myosin light chain 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)
HGVS:
  • NC_000012.12:g.110911145C>T
  • NG_007554.1:g.14433G>A
  • NM_000432.4:c.433G>AMANE SELECT
  • NP_000423.2:p.Asp145Asn
  • NP_000423.2:p.Asp145Asn
  • LRG_393t1:c.433G>A
  • LRG_393:g.14433G>A
  • LRG_393p1:p.Asp145Asn
  • NC_000012.11:g.111348949C>T
  • NM_000432.3:c.433G>A
Protein change:
D145N
Links:
dbSNP: rs199567559
NCBI 1000 Genomes Browser:
rs199567559
Molecular consequence:
  • NM_000432.4:c.433G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy 10
Synonyms:
CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2; Familial hypertrophic cardiomyopathy 10; MYL2-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0012112; MedGen: C1834460; OMIM: 608758

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000934580Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Mar 7, 2023)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.

Haskell GT, Jensen BC, Samsa LA, Marchuk D, Huang W, Skrzynia C, Tilley C, Seifert BA, Rivera-Muñoz EA, Koller B, Wilhelmsen KC, Liu J, Alhosaini H, Weck KE, Evans JP, Berg JS.

Circ Cardiovasc Genet. 2017 Jun;10(3). doi:pii: e001443. 10.1161/CIRCGENETICS.116.001443.

PubMed [citation]
PMID:
28611029
PMCID:
PMC5497793

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000934580.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 145 of the MYL2 protein (p.Asp145Asn). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 191733). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 28611029). This variant is present in population databases (rs199567559, gnomAD 0.004%).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024