NM_014365.3(HSPB8):c.201C>T (p.Gly67=) AND Charcot-Marie-Tooth disease axonal type 2L

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 10, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000686245.7

Allele description [Variation Report for NM_014365.3(HSPB8):c.201C>T (p.Gly67=)]

NM_014365.3(HSPB8):c.201C>T (p.Gly67=)

Gene:

HSPB8:heat shock protein family B (small) member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.23

Genomic location:

Preferred name:

NM_014365.3(HSPB8):c.201C>T (p.Gly67=)

HGVS:

NC_000012.12:g.119179513C>T
NG_007953.2:g.5724C>T
NM_014365.3:c.201C>TMANE SELECT
NP_055180.1:p.Gly67=
NP_055180.1:p.Gly67=
LRG_249t1:c.201C>T
LRG_249:g.5724C>T
LRG_249p1:p.Gly67=
NC_000012.11:g.119617318C>T
NM_014365.2:c.201C>T

Links:

dbSNP: rs1565927038

NCBI 1000 Genomes Browser:

rs1565927038

Molecular consequence:

NM_014365.3:c.201C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Charcot-Marie-Tooth disease axonal type 2L
Synonyms:: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2L; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L; Charcot-Marie-Tooth disease, type 2L; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012096; MedGen: C1837552; Orphanet: 99945; OMIM: 608673

Recent activity

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protein FAM227B isoform X6 [Homo sapiens]
protein FAM227B isoform X6 [Homo sapiens]
gi|1034589943|ref|XP_016877479.1|

Protein
SRP156157 (1)
SRA
Carollia sowelli isolate Uma cytochrome b (cytb) gene, partial cds; mitochondria...
Carollia sowelli isolate Uma cytochrome b (cytb) gene, partial cds; mitochondrial
gi|2210666336|gb|MW193578.1|

Nucleotide
UNVERIFIED: Artibeus cinereus long-wavelength sensitive opsin-like (OPN1LW) gene...
UNVERIFIED: Artibeus cinereus long-wavelength sensitive opsin-like (OPN1LW) gene, partial sequence
gi|1483540799|gb|MH179246.1|

Nucleotide
UNVERIFIED: Sturnira lilium long-wavelength sensitive opsin-like (OPN1LW) gene, ...
UNVERIFIED: Sturnira lilium long-wavelength sensitive opsin-like (OPN1LW) gene, partial sequence
gi|1483540797|gb|MH179244.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000813755	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 10, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000813755

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 10, 2018)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000813755.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This sequence change affects codon 67 of the HSPB8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the HSPB8 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HSPB8-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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