NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) AND multiple conditions

Clinical significance:Benign (Last evaluated: Nov 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001081343.2

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)]

NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)

Gene:
CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)
HGVS:
  • NC_000019.10:g.13298896G>A
  • NG_011569.1:g.212565C>T
  • NM_000068.4:c.2749C>T
  • NM_001127221.2:c.2740C>T
  • NM_001127222.2:c.2737C>TMANE SELECT
  • NM_001174080.2:c.2740C>T
  • NM_023035.3:c.2749C>T
  • NP_000059.3:p.Pro917Ser
  • NP_001120693.1:p.Pro914Ser
  • NP_001120693.1:p.Pro914Ser
  • NP_001120694.1:p.Pro913Ser
  • NP_001167551.1:p.Pro914Ser
  • NP_075461.2:p.Pro917Ser
  • LRG_7t1:c.2740C>T
  • LRG_7:g.212565C>T
  • LRG_7p1:p.Pro914Ser
  • NC_000019.9:g.13409710G>A
  • NM_000068.2:c.2740C>T
  • NM_001127221.1:c.2740C>T
Protein change:
P913S
Links:
dbSNP: rs16020
NCBI 1000 Genomes Browser:
rs16020
Molecular consequence:
  • NM_000068.4:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127221.2:c.2740C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127222.2:c.2737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174080.2:c.2740C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023035.3:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Episodic ataxia type 2 (EA2)
Synonyms:
Episodic ataxia with nystagmus; Nystagmus-associated episodic ataxia; Cerebellopathy, hereditary paroxysmal; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007163; MedGen: C1720416; Orphanet: 97; OMIM: 108500
Name:
Developmental and epileptic encephalopathy, 42 (DEE42)
Synonyms:
Epileptic encephalopathy, early infantile, 42
Identifiers:
MONDO: MONDO:0014917; MedGen: C4310716; OMIM: 617106

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000656729Invitaecriteria provided, single submitter
Benign
(Nov 21, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000656729.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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