NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) AND Seizures

Clinical significance:Benign (Last evaluated: Mar 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000716555.1

Allele description [Variation Report for NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=)]

NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=)

Gene:
SPTAN1:spectrin alpha, non-erythrocytic 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=)
Other names:
p.N2220N:AAC>AAT
HGVS:
  • NC_000009.12:g.128627469C>T
  • NG_027748.1:g.79912C>T
  • NM_001130438.3:c.6660C>TMANE SELECT
  • NM_001195532.2:c.6585C>T
  • NM_001363759.2:c.6660C>T
  • NM_001363765.2:c.6600C>T
  • NM_003127.4:c.6645C>T
  • NP_001123910.1:p.Asn2220=
  • NP_001182461.1:p.Asn2195=
  • NP_001350688.1:p.Asn2220=
  • NP_001350694.1:p.Asn2200=
  • NP_003118.2:p.Asn2215=
  • NC_000009.11:g.131389748C>T
  • NM_001130438.2:c.6660C>T
Links:
dbSNP: rs112955915
NCBI 1000 Genomes Browser:
rs112955915
Molecular consequence:
  • NM_001130438.3:c.6660C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195532.2:c.6585C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363759.2:c.6660C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001363765.2:c.6600C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003127.4:c.6645C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000847396Ambry Geneticscriteria provided, single submitter
Benign
(Mar 18, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000847396.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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