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NM_003900.4(SQSTM1):c.1044G>A (p.Pro348=)

Variation ID: Help
259187
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign/Likely benign
Last evaluated:
Jan 23, 2018
Number of submission(s):
3
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_003900.4(SQSTM1):c.1044G>A (p.Pro348=)

Allele ID:
251878
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
  • Chr5: 179833661 (on Assembly GRCh38)
  • Chr5: 179260661 (on Assembly GRCh37)
HGVS:
  • NG_011342.1:g.32274G>A
  • NM_001142298.1:c.792G>A
  • NM_003900.4:c.1044G>A
  • NP_001135770.1:p.Pro264=
  • NP_003891.1:p.Pro348=
  • NC_000005.10:g.179833661G>A (GRCh38)
  • NC_000005.9:g.179260661G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs10058037
Molecular consequence:
NM_001142298.1:c.792G>A: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • 1000 Genomes Project 0.03295 (A)
  • 1000 Genomes Project 0.03295
  • Exome Aggregation Consortium (ExAC) 0.00948
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.03206
  • The Genome Aggregation Database (gnomAD) 0.03017
  • The Genome Aggregation Database (gnomAD), exomes 0.00722
  • Trans-Omics for Precision Medicine (TOPMed) 0.03311

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benigncriteria provided, single submitter
clinical testinggermline
    PreventionGenetics,PreventionGeneticsSCV000309857.1
    Likely benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000456920.2
      Benign
      (Jan 23, 2018)
      criteria provided, single submitter
      clinical testing
      • Amyotrophic lateral sclerosis and/or frontotemporal dementia 1[MedGen | OMIM]
      • Paget disease of bone 2, early-onset[MedGen | OMIM]
      germline
        InvitaeSCV000655589.2
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot providednot providedgermlinenot providednot provided
        Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
        Invitaenot providednot providedgermlinenot providednot providednot providednot provided
        PreventionGenetics,PreventionGeneticsnot providednot providedgermlinenot providednot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Mar 31, 2019

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