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NM_001540.4(HSPB1):c.99C>T (p.Phe33=)

Variation ID: Help
220380
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely benign
Last evaluated:
Sep 26, 2015
Number of submission(s):
1
Condition(s):
Charcot-Marie-Tooth disease type 2F[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001540.4(HSPB1):c.99C>T (p.Phe33=)

Allele ID:
221738
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
  • Chr7: 76302811 (on Assembly GRCh38)
  • Chr7: 75932128 (on Assembly GRCh37)
HGVS:
  • NG_008995.1:g.5254C>T
  • NM_001540.4:c.99C>T
  • NP_001531.1:p.Phe33=
  • NC_000007.14:g.76302811C>T (GRCh38)
  • LRG_248t1:c.99C>T
  • NC_000007.13:g.75932128C>T (GRCh37)
  • NM_001540.3:c.99C>T
  • LRG_248p1:p.Phe33=
  • LRG_248:g.5254C>T
Links:
NCBI 1000 Genomes Browser:
rs762032846
Molecular consequence:
NM_001540.4:c.99C>T: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00001
  • The Genome Aggregation Database (gnomAD), exomes 0.00001

1 Affected gene

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
Likely benign
(Sep 26, 2015)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000260872.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Invitaenot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Jun 17, 2019

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