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NM_032578.4(MYPN):c.768T>G (p.Pro256=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 25, 2019
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:
RCV002400528.2

Allele description [Variation Report for NM_032578.4(MYPN):c.768T>G (p.Pro256=)]

NM_032578.4(MYPN):c.768T>G (p.Pro256=)

Gene:
MYPN:myopalladin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_032578.4(MYPN):c.768T>G (p.Pro256=)
HGVS:
  • NC_000010.11:g.68122206T>G
  • NG_032118.1:g.21090T>G
  • NM_001256267.2:c.768T>G
  • NM_001256268.2:c.-355T>G
  • NM_032578.4:c.768T>GMANE SELECT
  • NP_001243196.1:p.Pro256=
  • NP_115967.2:p.Pro256=
  • NP_115967.2:p.Pro256=
  • LRG_410t1:c.768T>G
  • LRG_410:g.21090T>G
  • LRG_410p1:p.Pro256=
  • NC_000010.10:g.69881963T>G
  • NM_032578.2:c.768T>G
  • NM_032578.3:c.768T>G
  • NR_045663.4:n.1005T>G
Molecular consequence:
  • NM_001256268.2:c.-355T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_045663.4:n.1005T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001256267.2:c.768T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_032578.4:c.768T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002669509Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 25, 2019) 		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 Ambry Genetics, SCV002669509.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024