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NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) AND Dilated cardiomyopathy 1U

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 12, 2017
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:
RCV001120057.5

Allele description [Variation Report for NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)]

NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)

Gene:
PSEN1:presenilin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.2
Genomic location:
Preferred name:
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)
HGVS:
  • NC_000014.9:g.73170813G>A
  • NG_007386.2:g.39343G>A
  • NM_000021.4:c.104G>AMANE SELECT
  • NM_007318.3:c.92G>A
  • NP_000012.1:p.Arg35Gln
  • NP_015557.2:p.Arg31Gln
  • LRG_224t1:c.104G>A
  • LRG_224:g.39343G>A
  • LRG_224p1:p.Arg35Gln
  • NC_000014.8:g.73637521G>A
  • NM_000021.3:c.104G>A
  • P49768:p.Arg35Gln
Protein change:
R31Q
Links:
UniProtKB: P49768#VAR_075260; dbSNP: rs63750592
NCBI 1000 Genomes Browser:
rs63750592
Molecular consequence:
  • NM_000021.4:c.104G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007318.3:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1U
Identifiers:
MONDO: MONDO:0013371; MedGen: C3160720; Orphanet: 154; OMIM: 613694

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001278520Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Sep 12, 2017) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001278520.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: May 7, 2024