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NM_000117.3(EMD):c.572T>C (p.Met191Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 21, 2021
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:
RCV002350560.3

Allele description [Variation Report for NM_000117.3(EMD):c.572T>C (p.Met191Thr)]

NM_000117.3(EMD):c.572T>C (p.Met191Thr)

Gene:
EMD:emerin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000117.3(EMD):c.572T>C (p.Met191Thr)
HGVS:
  • NC_000023.11:g.154381004T>C
  • NG_008677.1:g.11569T>C
  • NM_000117.3:c.572T>CMANE SELECT
  • NP_000108.1:p.Met191Thr
  • LRG_745:g.11569T>C
  • NC_000023.10:g.153609364T>C
  • NM_000117.2:c.572T>C
Protein change:
M191T
Links:
dbSNP: rs782244432
NCBI 1000 Genomes Browser:
rs782244432
Molecular consequence:
  • NM_000117.3:c.572T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002649658Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 21, 2021)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.

Dharmaraj T, Guan Y, Liu J, Badens C, Gaborit B, Wilson KL.

Front Cell Dev Biol. 2019;7:48. doi: 10.3389/fcell.2019.00048.

PubMed [citation]
PMID:
31024910
PMCID:
PMC6459885

Details of each submission

From Ambry Genetics, SCV002649658.2

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

Description

The p.M191T variant (also known as c.572T>C), located in coding exon 6 of the EMD gene, results from a T to C substitution at nucleotide position 572. The methionine at codon 191 is replaced by threonine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.002% (3/183126) total alleles studied, with 2 hemizygotes observed. The highest observed frequency was 0.004% (3/818780) of European (non-Finnish alleles). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024