NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del) AND Atrial fibrillation, familial, 6

Clinical significance:Uncertain significance (Last evaluated: Jun 11, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001042132.1

Allele description [Variation Report for NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del)]

NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del)

Genes:
NPPA-AS1:NPPA antisense RNA 1 [Gene - HGNC]
LOC114827827:VISTA enhancer hs2123 [Gene]
NPPA:natriuretic peptide A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del)
HGVS:
  • NC_000001.11:g.11847213_11847221del
  • NG_012926.1:g.5567_5575del
  • NG_065183.1:g.495_503del
  • NM_006172.4:c.346_354delMANE SELECT
  • NP_006163.1:p.Arg116_Leu118del
  • LRG_751t1:c.346_354del
  • LRG_751:g.5567_5575del
  • NC_000001.10:g.11907270_11907278del
  • NM_006172.3:c.346_354del
Molecular consequence:
  • NM_006172.4:c.346_354del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Atrial fibrillation, familial, 6 (ATFB6)
Identifiers:
MONDO: MONDO:0012816; MedGen: C2677294; OMIM: 612201

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001205796Invitaecriteria provided, single submitter
Uncertain significance
(Jun 11, 2019)
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, SCV001205796.1

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

Description

This variant, c.346_354del, results in the deletion of 3 amino acid(s) of the NPPA protein (p.Arg116_Leu118del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with NPPA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 7, 2021

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