NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) AND not specified

Germline classification:: no classifications from unflagged records (1 submission)
Review status:: no classifications from unflagged records

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:: RCV001731396.13

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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No clinical assertions found. See "Flagged submissions" below.

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	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 Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital, SCV001984103.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001984103	Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	flagged submission Reason: This record appears to be redundant with a more recent record from the same submitter. Notes: SCV001984103 appears to be redundant with SCV002818215. (ACMG Guidelines, 2015)	Likely pathogenic (Jan 24, 2020)	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

SCV001984103

Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital

flagged submission

Reason: This record appears to be redundant with a more recent record from the same submitter.

Notes: SCV001984103 appears to be redundant with SCV002818215.

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 24, 2020)

germline

clinical testing

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

Last Updated: Jun 2, 2024

ClinVar

Relating variation to medicine