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NM_001540.5(HSPB1):c.318G>C (p.Pro106=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 30, 2021)
Last evaluated:
Nov 11, 2020
Accession:
VCV000382632.6
Variation ID:
382632
Description:
single nucleotide variant
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NM_001540.5(HSPB1):c.318G>C (p.Pro106=)

Allele ID
369980
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q11.23
Genomic location
7: 76303030 (GRCh38) GRCh38 UCSC
7: 75932347 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_248:g.5473G>C
LRG_248t1:c.318G>C
NC_000007.13:g.75932347G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:76303029:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00021
Links
ClinGen: CA4306307
dbSNP: rs750349055
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 11, 2020 RCV000470231.6
Benign 1 criteria provided, single submitter Jun 2, 2020 RCV000438162.4
Likely benign 1 criteria provided, single submitter Sep 11, 2020 RCV001720149.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HSPB1 - - GRCh38
GRCh37
234 272

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 02, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476479.1
Submitted: (Dec 30, 2020)
Evidence details
Likely benign
(Nov 11, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease axonal type 2F
Allele origin: germline
Invitae
Accession: SCV000561802.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Sep 11, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000522625.5
Submitted: (Sep 30, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs750349055...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021