NM_153485.3(NUP155):c.1204G>A (p.Val402Met) AND Atrial fibrillation, familial, 15

Clinical significance:Uncertain significance (Last evaluated: Apr 11, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001090184.1

Allele description [Variation Report for NM_153485.3(NUP155):c.1204G>A (p.Val402Met)]

NM_153485.3(NUP155):c.1204G>A (p.Val402Met)

Gene:
NUP155:nucleoporin 155 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_153485.3(NUP155):c.1204G>A (p.Val402Met)
HGVS:
  • NC_000005.10:g.37341132C>T
  • NG_034131.1:g.34995G>A
  • NM_001278312.2:c.1204G>A
  • NM_004298.4:c.1027G>A
  • NM_153485.3:c.1204G>AMANE SELECT
  • NP_001265241.1:p.Val402Met
  • NP_004289.1:p.Val343Met
  • NP_705618.1:p.Val402Met
  • NC_000005.9:g.37341234C>T
Protein change:
V343M
Molecular consequence:
  • NM_001278312.2:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004298.4:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153485.3:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Atrial fibrillation, familial, 15 (ATFB15)
Identifiers:
MONDO: MONDO:0014340; MedGen: C4014269; OMIM: 615770

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001244314Diagnostics Services, CSIR - Centre for Cellular and Molecular Biologycriteria provided, single submitter
Uncertain significance
(Apr 11, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownno1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Diagnostics Services, CSIR - Centre for Cellular and Molecular Biology, SCV001244314.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The c.1027G>A variant is present in publicly available databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP at a very low frequency, only in heterozygous state. The variant is also present in our in-house exome database, only in heterozygous state (MAF~0.004). The variant was not reported to OMIM, Human Genome Mutation Database (HGMD) or ClinVar databases in any affected individuals. In-silico pathogenicity prediction programs like PolyPhen-3, MutationTaster2, CADD etc. predicted this variant to be likely deleterious. However there are no documented functional studies to prove this. Due to lack of enough evidence the variant has been classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnonot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 19, 2021

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