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NM_006790.3(MYOT):c.1242C>T (p.Asn414=) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 30, 2020
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:
RCV001810665.13

Allele description [Variation Report for NM_006790.3(MYOT):c.1242C>T (p.Asn414=)]

NM_006790.3(MYOT):c.1242C>T (p.Asn414=)

Genes:
PKD2L2-DT:PKD2L2 divergent transcript [Gene - HGNC]
MYOT:myotilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.2
Genomic location:
Preferred name:
NM_006790.3(MYOT):c.1242C>T (p.Asn414=)
HGVS:
  • NC_000005.10:g.137886915C>T
  • NG_008894.1:g.24060C>T
  • NM_001135940.2:c.690C>T
  • NM_001300911.2:c.897C>T
  • NM_006790.3:c.1242C>TMANE SELECT
  • NP_001129412.1:p.Asn230=
  • NP_001287840.1:p.Asn299=
  • NP_006781.1:p.Asn414=
  • LRG_201:g.24060C>T
  • NC_000005.9:g.137222604C>T
Links:
dbSNP: rs1173495538
NCBI 1000 Genomes Browser:
rs1173495538
Molecular consequence:
  • NM_001135940.2:c.690C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001300911.2:c.897C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006790.3:c.1242C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001477624ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Jun 30, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001477624.1

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

Description

The MYOT c.1242C>T; p.Asn414Asn variant to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site/weakening the nearby canonical site. Due to limited information, the clinical significance of the p.Asn414Asn variant is uncertain at this time.

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

Last Updated: Oct 20, 2024