U.S. flag

An official website of the United States government

NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) AND SPTAN1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 5, 2023
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:
RCV004551285.1

Allele description [Variation Report for NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])]

NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])

Gene:
SPTAN1:spectrin alpha, non-erythrocytic 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
HGVS:
  • NC_000009.12:g.128632263ACCAGCTGG[3]
  • NG_027748.1:g.84706ACCAGCTGG[3]
  • NG_034056.1:g.29573AGCTGGTCC[3]
  • NM_001130438.2:c.6908_6916dup9
  • NM_001130438.3:c.6899ACCAGCTGG[3]MANE SELECT
  • NM_001195532.2:c.6824ACCAGCTGG[3]
  • NM_001363759.2:c.6962ACCAGCTGG[3]
  • NM_001363765.2:c.6839ACCAGCTGG[3]
  • NM_001375310.1:c.6986ACCAGCTGG[3]
  • NM_001375311.2:c.6899ACCAGCTGG[3]
  • NM_001375312.2:c.6935ACCAGCTGG[3]
  • NM_001375313.1:c.6881ACCAGCTGG[3]
  • NM_001375314.2:c.6839ACCAGCTGG[3]
  • NM_001375318.1:c.6998ACCAGCTGG[3]
  • NM_003127.4:c.6884ACCAGCTGG[3]
  • NP_001123910.1:p.2300DQL[3]
  • NP_001182461.1:p.2275DQL[3]
  • NP_001350688.1:p.2321DQL[3]
  • NP_001350694.1:p.2280DQL[3]
  • NP_001362239.1:p.2329DQL[3]
  • NP_001362240.1:p.2300DQL[3]
  • NP_001362241.2:p.2312DQL[3]
  • NP_001362242.1:p.2294DQL[3]
  • NP_001362243.1:p.2280DQL[3]
  • NP_001362247.1:p.2333DQL[3]
  • NP_003118.2:p.2295DQL[3]
  • NC_000009.11:g.131394539_131394540insGGACCAGCT
  • NC_000009.11:g.131394542ACCAGCTGG[3]
  • NC_000009.12:g.128632260_128632261insGGACCAGCT
  • NM_001130438.2:c.6908_6916dupACCAGCTGG
  • NM_001130438.3:c.6908_6916dupMANE SELECT
  • NM_003127.4:c.6881_6882insGGACCAGCT
  • p.D2303_L2305dup
  • p.Leu2305_Gly2306insAspGlnLeu
Links:
OMIM: 182810.0005; dbSNP: rs587784440
NCBI 1000 Genomes Browser:
rs587784440
Molecular consequence:
  • NM_001130438.3:c.6899ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001195532.2:c.6824ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001363759.2:c.6962ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001363765.2:c.6839ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375310.1:c.6986ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375311.2:c.6899ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375312.2:c.6935ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375313.1:c.6881ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375314.2:c.6839ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001375318.1:c.6998ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_003127.4:c.6884ACCAGCTGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
SPTAN1-related disorder
Synonyms:
SPTAN1-related disorders; SPTAN1-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004119798PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 5, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 PreventionGenetics, part of Exact Sciences, SCV004119798.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The SPTAN1 c.6908_6916dup9 variant is predicted to result in an in-frame duplication (p.Asp2303_Leu2305dup). This variant has been reported as a recurrent de novo change in multiple unrelated individuals affected with West syndrome with progressive brain atrophy and functional studies suggested that this variant causes aggregation of spectrin complexes in neurons via dominant-negative effects (Nonoda et al. 2013. PubMed ID: 22656320; Tohyama et al. 2015. PubMed ID: 25631096; Syrbe et al. 2017. PubMed ID: 29050398; Wang et al. 2018. PubMed ID: 29337302). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024