NM_144573.4(NEXN):c.156C>T (p.Asp52=) AND multiple conditions

Clinical significance:Benign (Last evaluated: Nov 2, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000465499.6

Allele description [Variation Report for NM_144573.4(NEXN):c.156C>T (p.Asp52=)]

NM_144573.4(NEXN):c.156C>T (p.Asp52=)

Gene:
NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_144573.4(NEXN):c.156C>T (p.Asp52=)
HGVS:
  • NC_000001.11:g.77917694C>T
  • NG_016625.1:g.34180C>T
  • NM_001172309.1:c.28-266C>T
  • NM_144573.3:c.156C>T
  • NM_144573.4:c.156C>TMANE SELECT
  • NP_653174.3:p.Asp52=
  • NP_653174.3:p.Asp52=
  • LRG_442t1:c.156C>T
  • LRG_442:g.34180C>T
  • LRG_442p1:p.Asp52=
  • NC_000001.10:g.78383379C>T
  • p.Asp52Asp
Links:
dbSNP: rs371431782
NCBI 1000 Genomes Browser:
rs371431782
Molecular consequence:
  • NM_001172309.1:c.28-266C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_144573.3:c.156C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_144573.4:c.156C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Dilated cardiomyopathy 1CC (CMD1CC)
Identifiers:
MONDO: MONDO:0013147; MedGen: C2751084; Orphanet: 154; OMIM: 613122
Name:
Familial hypertrophic cardiomyopathy 20 (CMH20)
Synonyms:
Hypertrophic cardiomyopathy 20
Identifiers:
MONDO: MONDO:0013477; MedGen: C3151267; OMIM: 613876

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000560167Invitaecriteria provided, single submitter
Benign
(Nov 2, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000560167.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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