NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 15, 2016
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:: RCV000660459.5

Allele description [Variation Report for NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)]

NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)

Gene:

SPTBN2:spectrin beta, non-erythrocytic 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

Preferred name:

NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)

HGVS:

NC_000011.10:g.66688301C>T
NG_016150.2:g.46061G>A
NM_006946.4:c.6242G>AMANE SELECT
NP_008877.2:p.Arg2081Gln
NC_000011.9:g.66455772C>T
NM_006946.2:c.6242G>A

Protein change:

R2081Q

Links:

dbSNP: rs764407421

NCBI 1000 Genomes Browser:

rs764407421

Molecular consequence:

NM_006946.4:c.6242G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Spinocerebellar ataxia type 5 (SCA5)
Identifiers:: MONDO: MONDO:0010848; MedGen: C0752123; Orphanet: 98766; OMIM: 600224

Name:: Autosomal recessive spinocerebellar ataxia 14
Synonyms:: CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1
Identifiers:: MONDO: MONDO:0014159; MedGen: C4706415; Orphanet: 352403; OMIM: 615386

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000782552	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 15, 2016)	maternal	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

SCV000782552

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 15, 2016)

maternal

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	maternal	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Mayo Clinic Laboratories, Mayo Clinic, SCV000782552.1

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

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

Last Updated: May 1, 2024

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